Name: rs10490924
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs10490924

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:122454932 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.245137 (72266/294798, ALFA)
T=0.236193 (62518/264690, TOPMED)
T=0.255297 (63112/247210, GnomAD_exome) (+ 23 more)
T=0.229733 (32159/139984, GnomAD)
T=0.255017 (30730/120502, ExAC)
T=0.26123 (20557/78694, PAGE_STUDY)
T=0.34861 (9851/28258, 14KJPN)
T=0.35245 (5907/16760, 8.3KJPN)
T=0.2798 (1792/6404, 1000G_30x)
T=0.2865 (1435/5008, 1000G)
T=0.2922 (1309/4480, Estonian)
T=0.2198 (847/3854, ALSPAC)
T=0.2236 (829/3708, TWINSUK)
T=0.4177 (1224/2930, KOREAN)
T=0.2859 (541/1892, HapMap)
T=0.4110 (753/1832, Korea1K)
T=0.189 (189/998, GoNL)
T=0.273 (171/626, Chileans)
T=0.258 (155/600, NorthernSweden)
T=0.197 (105/534, MGP)
G=0.372 (108/290, SGDP_PRJ)
T=0.194 (42/216, Qatari)
T=0.361 (78/216, Vietnamese)
T=0.09 (8/86, Ancient Sardinia)
T=0.23 (9/40, GENOME_DK)
G=0.35 (12/34, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ARMS2 : Missense Variant
LOC105378525 : Intron Variant
Publications: 323 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	311142	G=0.755967	T=0.244033	0.579485	0.067551	0.352964	32
European	Sub	261454	G=0.762375	T=0.237625	0.588241	0.063491	0.348268	32
African	Sub	15660	G=0.76022	T=0.23978	0.581354	0.06092	0.357727	2
African Others	Sub	550	G=0.780	T=0.220	0.610909	0.050909	0.338182	0
African American	Sub	15110	G=0.75950	T=0.24050	0.580278	0.061284	0.358438	2
Asian	Sub	6912	G=0.5310	T=0.4690	0.296007	0.234086	0.469907	7
East Asian	Sub	4928	G=0.5091	T=0.4909	0.273945	0.255682	0.470373	5
Other Asian	Sub	1984	G=0.5852	T=0.4148	0.350806	0.180444	0.46875	1
Latin American 1	Sub	1468	G=0.7793	T=0.2207	0.611717	0.053134	0.33515	0
Latin American 2	Sub	4702	G=0.7359	T=0.2641	0.537218	0.065504	0.397278	1
South Asian	Sub	378	G=0.606	T=0.394	0.391534	0.179894	0.428571	1
Other	Sub	20568	G=0.75258	T=0.24742	0.572832	0.067678	0.35949	7

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	294798	G=0.754863	T=0.245137
Allele Frequency Aggregator	European	Sub	251378	G=0.761542	T=0.238458
Allele Frequency Aggregator	Other	Sub	19132	G=0.75052	T=0.24948
Allele Frequency Aggregator	African	Sub	10828	G=0.76053	T=0.23947
Allele Frequency Aggregator	Asian	Sub	6912	G=0.5310	T=0.4690
Allele Frequency Aggregator	Latin American 2	Sub	4702	G=0.7359	T=0.2641
Allele Frequency Aggregator	Latin American 1	Sub	1468	G=0.7793	T=0.2207
Allele Frequency Aggregator	South Asian	Sub	378	G=0.606	T=0.394
TopMed	Global	Study-wide	264690	G=0.763807	T=0.236193
gnomAD - Exomes	Global	Study-wide	247210	G=0.744703	T=0.255297
gnomAD - Exomes	European	Sub	132590	G=0.779795	T=0.220205
gnomAD - Exomes	Asian	Sub	48556	G=0.64276	T=0.35724
gnomAD - Exomes	American	Sub	34496	G=0.73113	T=0.26887
gnomAD - Exomes	African	Sub	15478	G=0.76664	T=0.23336
gnomAD - Exomes	Ashkenazi Jewish	Sub	10052	G=0.78492	T=0.21508
gnomAD - Exomes	Other	Sub	6038	G=0.7483	T=0.2517
gnomAD - Genomes	Global	Study-wide	139984	G=0.770267	T=0.229733
gnomAD - Genomes	European	Sub	75820	G=0.77691	T=0.22309
gnomAD - Genomes	African	Sub	41922	G=0.77117	T=0.22883
gnomAD - Genomes	American	Sub	13648	G=0.77052	T=0.22948
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.7952	T=0.2048
gnomAD - Genomes	East Asian	Sub	3124	G=0.5755	T=0.4245
gnomAD - Genomes	Other	Sub	2150	G=0.7614	T=0.2386
ExAC	Global	Study-wide	120502	G=0.744983	T=0.255017
ExAC	Europe	Sub	73198	G=0.77704	T=0.22296
ExAC	Asian	Sub	25084	G=0.64922	T=0.35078
ExAC	American	Sub	11538	G=0.73150	T=0.26850
ExAC	African	Sub	9788	G=0.7664	T=0.2336
ExAC	Other	Sub	894	G=0.746	T=0.254
The PAGE Study	Global	Study-wide	78694	G=0.73877	T=0.26123
The PAGE Study	AfricanAmerican	Sub	32510	G=0.76635	T=0.23365
The PAGE Study	Mexican	Sub	10810	G=0.74265	T=0.25735
The PAGE Study	Asian	Sub	8318	G=0.6284	T=0.3716
The PAGE Study	PuertoRican	Sub	7918	G=0.7777	T=0.2223
The PAGE Study	NativeHawaiian	Sub	4534	G=0.6112	T=0.3888
The PAGE Study	Cuban	Sub	4230	G=0.7813	T=0.2187
The PAGE Study	Dominican	Sub	3828	G=0.7811	T=0.2189
The PAGE Study	CentralAmerican	Sub	2450	G=0.7155	T=0.2845
The PAGE Study	SouthAmerican	Sub	1980	G=0.7303	T=0.2697
The PAGE Study	NativeAmerican	Sub	1260	G=0.7722	T=0.2278
The PAGE Study	SouthAsian	Sub	856	G=0.668	T=0.332
14KJPN	JAPANESE	Study-wide	28258	G=0.65139	T=0.34861
8.3KJPN	JAPANESE	Study-wide	16760	G=0.64755	T=0.35245
1000Genomes_30x	Global	Study-wide	6404	G=0.7202	T=0.2798
1000Genomes_30x	African	Sub	1786	G=0.7542	T=0.2458
1000Genomes_30x	Europe	Sub	1266	G=0.8033	T=0.1967
1000Genomes_30x	South Asian	Sub	1202	G=0.6714	T=0.3286
1000Genomes_30x	East Asian	Sub	1170	G=0.6009	T=0.3991
1000Genomes_30x	American	Sub	980	G=0.753	T=0.247
1000Genomes	Global	Study-wide	5008	G=0.7135	T=0.2865
1000Genomes	African	Sub	1322	G=0.7542	T=0.2458
1000Genomes	East Asian	Sub	1008	G=0.5962	T=0.4038
1000Genomes	Europe	Sub	1006	G=0.8052	T=0.1948
1000Genomes	South Asian	Sub	978	G=0.657	T=0.343
1000Genomes	American	Sub	694	G=0.752	T=0.248
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.7078	T=0.2922
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7802	T=0.2198
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7764	T=0.2236
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.5823	C=0.0000, T=0.4177
HapMap	Global	Study-wide	1892	G=0.7141	T=0.2859
HapMap	American	Sub	770	G=0.712	T=0.288
HapMap	African	Sub	692	G=0.720	T=0.280
HapMap	Asian	Sub	254	G=0.610	T=0.390
HapMap	Europe	Sub	176	G=0.852	T=0.148
Korean Genome Project	KOREAN	Study-wide	1832	G=0.5890	T=0.4110
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.811	T=0.189
Chileans	Chilean	Study-wide	626	G=0.727	T=0.273
Northern Sweden	ACPOP	Study-wide	600	G=0.742	T=0.258
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.803	T=0.197
SGDP_PRJ	Global	Study-wide	290	G=0.372	T=0.628
Qatari	Global	Study-wide	216	G=0.806	T=0.194
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.639	T=0.361
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	86	G=0.91	T=0.09
The Danish reference pan genome	Danish	Study-wide	40	G=0.78	T=0.23
Siberian	Global	Study-wide	34	G=0.35	T=0.65

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 10	NC_000010.11:g.122454932G>C
GRCh38.p14 chr 10	NC_000010.11:g.122454932G>T
GRCh37.p13 chr 10	NC_000010.10:g.124214448G>C
GRCh37.p13 chr 10	NC_000010.10:g.124214448G>T
ARMS2 RefSeqGene	NG_011725.1:g.5270G>C
ARMS2 RefSeqGene	NG_011725.1:g.5270G>T

Gene: ARMS2, age-related maculopathy susceptibility 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ARMS2 transcript	NM_001099667.3:c.205G>C	A [GCT] > P [CCT]	Coding Sequence Variant
age-related maculopathy susceptibility protein 2	NP_001093137.1:p.Ala69Pro	A (Ala) > P (Pro)	Missense Variant
ARMS2 transcript	NM_001099667.3:c.205G>T	A [GCT] > S [TCT]	Coding Sequence Variant
age-related maculopathy susceptibility protein 2	NP_001093137.1:p.Ala69Ser	A (Ala) > S (Ser)	Missense Variant

Gene: LOC105378525, uncharacterized LOC105378525 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105378525 transcript variant X1	XR_946382.3:n.	N/A	Intron Variant
LOC105378525 transcript variant X2	XR_946383.3:n.	N/A	Intron Variant
LOC105378525 transcript variant X3	XR_946384.3:n.	N/A	Intron Variant
LOC105378525 transcript variant X4	XR_946385.3:n.	N/A	Genic Downstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 16018 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000001030.5	Age related macular degeneration 8	Benign
RCV000190307.3	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	G=	C	T
GRCh38.p14 chr 10	NC_000010.11:g.122454932=	NC_000010.11:g.122454932G>C	NC_000010.11:g.122454932G>T
GRCh37.p13 chr 10	NC_000010.10:g.124214448=	NC_000010.10:g.124214448G>C	NC_000010.10:g.124214448G>T
ARMS2 RefSeqGene	NG_011725.1:g.5270=	NG_011725.1:g.5270G>C	NG_011725.1:g.5270G>T
ARMS2 transcript	NM_001099667.3:c.205=	NM_001099667.3:c.205G>C	NM_001099667.3:c.205G>T
ARMS2 transcript	NM_001099667.2:c.205=	NM_001099667.2:c.205G>C	NM_001099667.2:c.205G>T
ARMS2 transcript	NM_001099667.1:c.205=	NM_001099667.1:c.205G>C	NM_001099667.1:c.205G>T
age-related maculopathy susceptibility protein 2	NP_001093137.1:p.Ala69=	NP_001093137.1:p.Ala69Pro	NP_001093137.1:p.Ala69Ser

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

158 SubSNP, 28 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss14878415	Dec 05, 2003 (119)
2	AFFY	ss65986179	Nov 29, 2006 (127)
3	AFFY	ss66366386	Nov 29, 2006 (127)
4	AFFY	ss76089476	Dec 07, 2007 (129)
5	KRIBB_YJKIM	ss82727573	Dec 16, 2007 (130)
6	BCMHGSC_JDW	ss88387135	Mar 23, 2008 (129)
7	BGI	ss106708390	Feb 06, 2009 (130)
8	1000GENOMES	ss109818905	Jan 24, 2009 (130)
9	GMI	ss155652645	Dec 01, 2009 (131)
10	ILLUMINA	ss159900338	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss168784089	Jul 04, 2010 (132)
12	AFFY	ss172465871	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss174789455	Jul 04, 2010 (132)
14	PAGE_STUDY	ss181835968	Jul 04, 2010 (132)
15	BUSHMAN	ss202123104	Jul 04, 2010 (132)
16	1000GENOMES	ss211057019	Jul 14, 2010 (132)
17	1000GENOMES	ss224987391	Jul 14, 2010 (132)
18	1000GENOMES	ss235366774	Jul 15, 2010 (132)
19	1000GENOMES	ss242036864	Jul 15, 2010 (132)
20	OMIM-CURATED-RECORDS	ss252841370	Aug 10, 2010 (132)
21	GMI	ss280806252	May 04, 2012 (137)
22	ILLUMINA	ss410887241	Sep 17, 2011 (135)
23	ILLUMINA	ss479286012	May 04, 2012 (137)
24	ILLUMINA	ss479289056	May 04, 2012 (137)
25	ILLUMINA	ss479667324	Sep 08, 2015 (146)
26	ILLUMINA	ss484443506	May 04, 2012 (137)
27	EXOME_CHIP	ss491441612	May 04, 2012 (137)
28	ILLUMINA	ss536611890	Sep 08, 2015 (146)
29	TISHKOFF	ss562264666	Apr 25, 2013 (138)
30	SSMP	ss657501974	Apr 25, 2013 (138)
31	NHLBI-ESP	ss712973482	Apr 25, 2013 (138)
32	ILLUMINA	ss778687197	Sep 08, 2015 (146)
33	ILLUMINA	ss780891514	Sep 08, 2015 (146)
34	ILLUMINA	ss782668252	Sep 08, 2015 (146)
35	ILLUMINA	ss783577881	Sep 08, 2015 (146)
36	ILLUMINA	ss783637007	Sep 08, 2015 (146)
37	ILLUMINA	ss831918880	Sep 08, 2015 (146)
38	ILLUMINA	ss834145872	Sep 08, 2015 (146)
39	EVA-GONL	ss988011242	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1077363755	Aug 21, 2014 (142)
41	1000GENOMES	ss1339404127	Aug 21, 2014 (142)
42	DDI	ss1426470233	Apr 01, 2015 (144)
43	KYOTOUNIVOPHTHALMOL	ss1537037931	Jan 12, 2015 (142)
44	EVA_GENOME_DK	ss1575407124	Apr 01, 2015 (144)
45	EVA_DECODE	ss1597690598	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1625619654	Apr 01, 2015 (144)
47	EVA_UK10K_TWINSUK	ss1668613687	Apr 01, 2015 (144)
48	EVA_EXAC	ss1690114034	Apr 01, 2015 (144)
49	EVA_MGP	ss1711272673	Apr 01, 2015 (144)
50	EVA_SVP	ss1713218442	Apr 01, 2015 (144)
51	ILLUMINA	ss1751951995	Sep 08, 2015 (146)
52	ILLUMINA	ss1751951996	Sep 08, 2015 (146)
53	ILLUMINA	ss1917852545	Feb 12, 2016 (147)
54	WEILL_CORNELL_DGM	ss1931368779	Feb 12, 2016 (147)
55	ILLUMINA	ss1946295484	Feb 12, 2016 (147)
56	ILLUMINA	ss1946295485	Feb 12, 2016 (147)
57	ILLUMINA	ss1959302001	Feb 12, 2016 (147)
58	ILLUMINA	ss1959302002	Feb 12, 2016 (147)
59	GENOMED	ss1967245428	Jul 19, 2016 (147)
60	JJLAB	ss2026421597	Sep 14, 2016 (149)
61	ILLUMINA	ss2094789400	Dec 20, 2016 (150)
62	ILLUMINA	ss2095017883	Dec 20, 2016 (150)
63	USC_VALOUEV	ss2154699182	Dec 20, 2016 (150)
64	HUMAN_LONGEVITY	ss2178779226	Dec 20, 2016 (150)
65	SYSTEMSBIOZJU	ss2627678037	Nov 08, 2017 (151)
66	ILLUMINA	ss2632773689	Nov 08, 2017 (151)
67	ILLUMINA	ss2632773690	Nov 08, 2017 (151)
68	ILLUMINA	ss2632773691	Nov 08, 2017 (151)
69	GRF	ss2698960693	Nov 08, 2017 (151)
70	ILLUMINA	ss2710723496	Nov 08, 2017 (151)
71	GNOMAD	ss2738578738	Nov 08, 2017 (151)
72	GNOMAD	ss2748487499	Nov 08, 2017 (151)
73	GNOMAD	ss2894343924	Nov 08, 2017 (151)
74	AFFY	ss2984925854	Nov 08, 2017 (151)
75	AFFY	ss2985573824	Nov 08, 2017 (151)
76	SWEGEN	ss3007285447	Nov 08, 2017 (151)
77	ILLUMINA	ss3021283612	Nov 08, 2017 (151)
78	ILLUMINA	ss3021283613	Nov 08, 2017 (151)
79	EVA_SAMSUNG_MC	ss3023065823	Nov 08, 2017 (151)
80	BIOINF_KMB_FNS_UNIBA	ss3027000233	Nov 08, 2017 (151)
81	CSHL	ss3349350883	Nov 08, 2017 (151)
82	ILLUMINA	ss3625590330	Oct 12, 2018 (152)
83	ILLUMINA	ss3626554181	Oct 12, 2018 (152)
84	ILLUMINA	ss3626554182	Oct 12, 2018 (152)
85	ILLUMINA	ss3630795284	Oct 12, 2018 (152)
86	ILLUMINA	ss3633666028	Oct 12, 2018 (152)
87	ILLUMINA	ss3634428514	Oct 12, 2018 (152)
88	ILLUMINA	ss3634428515	Oct 12, 2018 (152)
89	ILLUMINA	ss3635358108	Oct 12, 2018 (152)
90	ILLUMINA	ss3636113262	Oct 12, 2018 (152)
91	ILLUMINA	ss3637108864	Oct 12, 2018 (152)
92	ILLUMINA	ss3640135855	Oct 12, 2018 (152)
93	ILLUMINA	ss3640135856	Oct 12, 2018 (152)
94	ILLUMINA	ss3641007936	Oct 12, 2018 (152)
95	ILLUMINA	ss3641302295	Oct 12, 2018 (152)
96	ILLUMINA	ss3644548261	Oct 12, 2018 (152)
97	ILLUMINA	ss3644548262	Oct 12, 2018 (152)
98	OMUKHERJEE_ADBS	ss3646416378	Oct 12, 2018 (152)
99	ILLUMINA	ss3651643317	Oct 12, 2018 (152)
100	ILLUMINA	ss3651643318	Oct 12, 2018 (152)
101	ILLUMINA	ss3653697131	Oct 12, 2018 (152)
102	EGCUT_WGS	ss3674704580	Jul 13, 2019 (153)
103	EVA_DECODE	ss3690850697	Jul 13, 2019 (153)
104	ILLUMINA	ss3725196458	Jul 13, 2019 (153)
105	ACPOP	ss3737753471	Jul 13, 2019 (153)
106	ILLUMINA	ss3744077597	Jul 13, 2019 (153)
107	ILLUMINA	ss3744372915	Jul 13, 2019 (153)
108	ILLUMINA	ss3744729481	Jul 13, 2019 (153)
109	ILLUMINA	ss3744729482	Jul 13, 2019 (153)
110	EVA	ss3748710406	Jul 13, 2019 (153)
111	PAGE_CC	ss3771589201	Jul 13, 2019 (153)
112	ILLUMINA	ss3772229709	Jul 13, 2019 (153)
113	ILLUMINA	ss3772229710	Jul 13, 2019 (153)
114	KHV_HUMAN_GENOMES	ss3814067629	Jul 13, 2019 (153)
115	EVA	ss3824562737	Apr 26, 2020 (154)
116	EVA	ss3825526684	Apr 26, 2020 (154)
117	EVA	ss3825542128	Apr 26, 2020 (154)
118	EVA	ss3825785571	Apr 26, 2020 (154)
119	EVA	ss3832376518	Apr 26, 2020 (154)
120	SGDP_PRJ	ss3875234388	Apr 26, 2020 (154)
121	KRGDB	ss3923415217	Apr 26, 2020 (154)
122	KOGIC	ss3968843180	Apr 26, 2020 (154)
123	FSA-LAB	ss3983988233	Apr 27, 2021 (155)
124	EVA	ss3984642355	Apr 27, 2021 (155)
125	EVA	ss3984642356	Apr 27, 2021 (155)
126	EVA	ss3985506034	Apr 27, 2021 (155)
127	EVA	ss3986052118	Apr 27, 2021 (155)
128	EVA	ss3986501839	Apr 27, 2021 (155)
129	EVA	ss4017512672	Apr 27, 2021 (155)
130	TOPMED	ss4869407099	Apr 27, 2021 (155)
131	TOMMO_GENOMICS	ss5199857208	Apr 27, 2021 (155)
132	EVA	ss5236887929	Apr 27, 2021 (155)
133	EVA	ss5237211047	Apr 27, 2021 (155)
134	EVA	ss5237485442	Apr 27, 2021 (155)
135	EVA	ss5237656274	Oct 16, 2022 (156)
136	1000G_HIGH_COVERAGE	ss5285765383	Oct 16, 2022 (156)
137	TRAN_CS_UWATERLOO	ss5314430058	Oct 16, 2022 (156)
138	EVA	ss5315509546	Oct 16, 2022 (156)
139	EVA	ss5396587077	Oct 16, 2022 (156)
140	HUGCELL_USP	ss5481158403	Oct 16, 2022 (156)
141	1000G_HIGH_COVERAGE	ss5580593076	Oct 16, 2022 (156)
142	EVA	ss5624013641	Oct 16, 2022 (156)
143	SANFORD_IMAGENETICS	ss5624261162	Oct 16, 2022 (156)
144	SANFORD_IMAGENETICS	ss5650267785	Oct 16, 2022 (156)
145	TOMMO_GENOMICS	ss5746339233	Oct 16, 2022 (156)
146	EVA	ss5799827812	Oct 16, 2022 (156)
147	EVA	ss5800163057	Oct 16, 2022 (156)
148	YY_MCH	ss5811958615	Oct 16, 2022 (156)
149	EVA	ss5825076099	Oct 16, 2022 (156)
150	EVA	ss5847381727	Oct 16, 2022 (156)
151	EVA	ss5847613155	Oct 16, 2022 (156)
152	EVA	ss5848309920	Oct 16, 2022 (156)
153	EVA	ss5849778535	Oct 16, 2022 (156)
154	EVA	ss5880874891	Oct 16, 2022 (156)
155	EVA	ss5936546083	Oct 16, 2022 (156)
156	EVA	ss5941575147	Oct 16, 2022 (156)
157	EVA	ss5979341836	Oct 16, 2022 (156)
158	EVA	ss5980644797	Oct 16, 2022 (156)
159	1000Genomes	NC_000010.10 - 124214448	Oct 12, 2018 (152)
160	1000Genomes_30x	NC_000010.11 - 122454932	Oct 16, 2022 (156)
161	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 124214448	Oct 12, 2018 (152)
162	Chileans	NC_000010.10 - 124214448	Apr 26, 2020 (154)
163	Genetic variation in the Estonian population	NC_000010.10 - 124214448	Oct 12, 2018 (152)
164	ExAC	NC_000010.10 - 124214448	Oct 12, 2018 (152)
165	The Danish reference pan genome	NC_000010.10 - 124214448	Apr 26, 2020 (154)
166	gnomAD - Genomes	NC_000010.11 - 122454932	Apr 27, 2021 (155)
167	gnomAD - Exomes	NC_000010.10 - 124214448	Jul 13, 2019 (153)
168	Genome of the Netherlands Release 5	NC_000010.10 - 124214448	Apr 26, 2020 (154)
169	HapMap	NC_000010.11 - 122454932	Apr 26, 2020 (154)
170	KOREAN population from KRGDB	NC_000010.10 - 124214448	Apr 26, 2020 (154)
171	Korean Genome Project	NC_000010.11 - 122454932	Apr 26, 2020 (154)
172	Medical Genome Project healthy controls from Spanish population	NC_000010.10 - 124214448	Apr 26, 2020 (154)
173	Northern Sweden	NC_000010.10 - 124214448	Jul 13, 2019 (153)
174	The PAGE Study	NC_000010.11 - 122454932	Jul 13, 2019 (153)
175	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000010.10 - 124214448	Apr 27, 2021 (155)
176	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 191825 (NC_000010.10:124214447:G:T 342/780) Row 191826 (NC_000010.10:124214447:G:T 342/782)	-	Apr 27, 2021 (155)
177	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 191825 (NC_000010.10:124214447:G:T 342/780) Row 191826 (NC_000010.10:124214447:G:T 342/782)	-	Apr 27, 2021 (155)
178	Qatari	NC_000010.10 - 124214448	Apr 26, 2020 (154)
179	SGDP_PRJ	NC_000010.10 - 124214448	Apr 26, 2020 (154)
180	Siberian	NC_000010.10 - 124214448	Apr 26, 2020 (154)
181	8.3KJPN	NC_000010.10 - 124214448	Apr 27, 2021 (155)
182	14KJPN	NC_000010.11 - 122454932	Oct 16, 2022 (156)
183	TopMed	NC_000010.11 - 122454932	Apr 27, 2021 (155)
184	UK 10K study - Twins	NC_000010.10 - 124214448	Oct 12, 2018 (152)
185	A Vietnamese Genetic Variation Database	NC_000010.10 - 124214448	Jul 13, 2019 (153)
186	ALFA	NC_000010.11 - 122454932	Apr 27, 2021 (155)
187	ClinVar	RCV000001030.5	Oct 16, 2022 (156)
188	ClinVar	RCV000190307.3	Oct 16, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs61632617	Feb 27, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
30592611, ss3923415217	NC_000010.10:124214447:G:C	NC_000010.11:122454931:G:C	(self)
ss88387135, ss109818905, ss168784089, ss174789455, ss202123104, ss211057019, ss280806252, ss479286012, ss1597690598, ss1713218442	NC_000010.9:124204437:G:T	NC_000010.11:122454931:G:T	(self)
51863589, 28811816, 63925, 20442828, 351264, 2362252, 7783392, 12840733, 30592611, 388433, 11038336, 731961, 13410709, 27251368, 7215536, 57826515, 28811816, 6393295, ss224987391, ss235366774, ss242036864, ss479289056, ss479667324, ss484443506, ss491441612, ss536611890, ss562264666, ss657501974, ss712973482, ss778687197, ss780891514, ss782668252, ss783577881, ss783637007, ss831918880, ss834145872, ss988011242, ss1077363755, ss1339404127, ss1426470233, ss1575407124, ss1625619654, ss1668613687, ss1690114034, ss1711272673, ss1751951995, ss1751951996, ss1917852545, ss1931368779, ss1946295484, ss1946295485, ss1959302001, ss1959302002, ss1967245428, ss2026421597, ss2094789400, ss2095017883, ss2154699182, ss2627678037, ss2632773689, ss2632773690, ss2632773691, ss2698960693, ss2710723496, ss2738578738, ss2748487499, ss2894343924, ss2984925854, ss2985573824, ss3007285447, ss3021283612, ss3021283613, ss3023065823, ss3349350883, ss3625590330, ss3626554181, ss3626554182, ss3630795284, ss3633666028, ss3634428514, ss3634428515, ss3635358108, ss3636113262, ss3637108864, ss3640135855, ss3640135856, ss3641007936, ss3641302295, ss3644548261, ss3644548262, ss3646416378, ss3651643317, ss3651643318, ss3653697131, ss3674704580, ss3737753471, ss3744077597, ss3744372915, ss3744729481, ss3744729482, ss3748710406, ss3772229709, ss3772229710, ss3824562737, ss3825526684, ss3825542128, ss3825785571, ss3832376518, ss3875234388, ss3923415217, ss3983988233, ss3984642355, ss3984642356, ss3985506034, ss3986052118, ss3986501839, ss4017512672, ss5199857208, ss5237485442, ss5315509546, ss5396587077, ss5624013641, ss5624261162, ss5650267785, ss5799827812, ss5800163057, ss5825076099, ss5847381727, ss5847613155, ss5848309920, ss5936546083, ss5941575147, ss5979341836, ss5980644797	NC_000010.10:124214447:G:T	NC_000010.11:122454931:G:T	(self)
RCV000001030.5, RCV000190307.3, 68119011, 366404120, 511781, 25221181, 810670, 80176337, 84952754, 6050838217, ss252841370, ss1537037931, ss2178779226, ss3027000233, ss3690850697, ss3725196458, ss3771589201, ss3814067629, ss3968843180, ss4869407099, ss5236887929, ss5237211047, ss5237656274, ss5285765383, ss5314430058, ss5481158403, ss5580593076, ss5746339233, ss5811958615, ss5849778535, ss5880874891	NC_000010.11:122454931:G:T	NC_000010.11:122454931:G:T	(self)
ss14878415, ss65986179, ss66366386, ss76089476, ss82727573, ss106708390, ss155652645, ss159900338, ss172465871, ss181835968, ss410887241	NT_030059.13:75018911:G:T	NC_000010.11:122454931:G:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

323 citations for rs10490924

PMID	Title	Author	Year	Journal
16080115	Susceptibility genes for age-related maculopathy on chromosome 10q26.	Jakobsdottir J et al.	2005	American journal of human genetics
16174643	Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.	Rivera A et al.	2005	Human molecular genetics
16642439	Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.	Schmidt S et al.	2006	American journal of human genetics
16936732	Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.	Maller J et al.	2006	Nature genetics
17050575	Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate.	Fisher SA et al.	2007	The British journal of ophthalmology
17210853	Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism.	Shuler RK Jr et al.	2007	Archives of ophthalmology (Chicago, Ill.
17325155	The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples.	Ross RJ et al.	2007	Investigative ophthalmology & visual science
17327825	An update on the genetics of age-related macular degeneration.	Scholl HP et al.	2007	Molecular vision
17347568	The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration.	Francis PJ et al.	2007	Human heredity
17426452	HTRA1 variant confers similar risks to geographic atrophy and neovascular age-related macular degeneration.	Cameron DJ et al.	2007	Cell cycle (Georgetown, Tex.)
17438519	HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration.	Yoshida T et al.	2007	Molecular vision
17692272	LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population.	Kondo N et al.	2007	American journal of ophthalmology
17884985	A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.	Kanda A et al.	2007	Proceedings of the National Academy of Sciences of the United States of America
17903296	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	Kiel DP et al.	2007	BMC medical genetics
17917691	Genetic markers and biomarkers for age-related macular degeneration.	Ross RJ et al.	2007	Expert review of ophthalmology
18043728	Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.	Francis PJ et al.	2007	PloS one
18061132	Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration.	Shuler RK Jr et al.	2008	American journal of ophthalmology
18079691	PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population.	Leveziel N et al.	2007	Molecular vision
18162041	Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.	Hughes AE et al.	2007	PLoS medicine
18164066	Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.	Deangelis MM et al.	2008	Ophthalmology
18248681	Prevalence of common disease-associated variants in Asian Indians.	Pemberton TJ et al.	2008	BMC genetics
18301036	HTRA1 polymorphism in dry and wet age-related macular degeneration.	Lin JM et al.	2008	Retina (Philadelphia, Pa.)
18316707	HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH.	Tam PO et al.	2008	Investigative ophthalmology & visual science
18423869	CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration.	Klein ML et al.	2008	Ophthalmology
18436811	Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients.	Kaur I et al.	2008	Investigative ophthalmology & visual science
18493315	C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.	Jakobsdottir J et al.	2008	PloS one
18515590	Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy.	Lee KY et al.	2008	Investigative ophthalmology & visual science
18535016	Rhesus monkeys and humans share common susceptibility genes for age-related macular disease.	Francis PJ et al.	2008	Human molecular genetics
18601744	Combining identity by descent and association in genetic case-control studies.	Zhang Q et al.	2008	BMC genetics
18682806	Joint effects of polymorphisms in the HTRA1, LOC387715/ARMS2, and CFH genes on AMD in a Caucasian population.	Francis PJ et al.	2008	Molecular vision
18682812	Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population.	Xu Y et al.	2008	Molecular vision
18688167	Polymorphisms in the LOC387715/ARMS2 putative gene and the risk for Alzheimer's disease.	Gatta LB et al.	2008	Dementia and geriatric cognitive disorders
19026761	Molecular pathology of age-related macular degeneration.	Ding X et al.	2009	Progress in retinal and eye research
19048105	Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration.	Seitsonen SP et al.	2008	PloS one
19065273	Sequence variants in HTRA1 and LOC387715/ARMS2 and phenotype and response to photodynamic therapy in neovascular age-related macular degeneration in populations from Israel.	Chowers I et al.	2008	Molecular vision
19117936	Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables.	Seddon JM et al.	2009	Investigative ophthalmology & visual science
19169232	Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.	Farwick A et al.	2009	Eye (London, England)
19202148	Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers.	Gu J et al.	2009	Molecular & cellular proteomics
19255159	Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria.	Wang G et al.	2009	Investigative ophthalmology & visual science
19259132	Multilocus analysis of age-related macular degeneration.	Bergeron-Sawitzke J et al.	2009	European journal of human genetics
19268887	ARMS2 (LOC387715) variants in Japanese patients with exudative age-related macular degeneration and polypoidal choroidal vasculopathy.	Gotoh N et al.	2009	American journal of ophthalmology
19491722	Analyses of single nucleotide polymorphisms and haplotype linkage of LOC387715 and the HTRA1 gene in exudative age-related macular degeneration in a Chinese cohort.	Jiang H et al.	2009	Retina (Philadelphia, Pa.)
19661236	Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.	Reynolds R et al.	2009	Investigative ophthalmology & visual science
19680273	ARMS2/HTRA1 and CFH polymorphisms are not associated with choroidal neovascularization in highly myopic eyes of the elderly Japanese population.	Nakanishi H et al.	2010	Eye (London, England)
19786043	Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: a systems biology based approach.	Silveira AC et al.	2010	Vision research
19796758	Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced age-related macular degeneration.	Andreoli MT et al.	2009	American journal of ophthalmology
19797206	Susceptibility genes and progression in age-related maculopathy: a study of single eyes.	Farwick A et al.	2010	Investigative ophthalmology & visual science
19806217	rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration.	Zerbib J et al.	2009	PloS one
19823576	CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD.	Scholl HP et al.	2009	PloS one
19844262	Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach.	Sobrin L et al.	2010	European journal of human genetics
19898184	Angiographic lesion size associated with LOC387715 A69S genotype in subfoveal polypoidal choroidal vasculopathy.	Sakurada Y et al.	2009	Retina (Philadelphia, Pa.)
19933179	Inverse association of female hormone replacement therapy with age-related macular degeneration and interactions with ARMS2 polymorphisms.	Edwards DR et al.	2010	Investigative ophthalmology & visual science
19933195	Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10, region q26.	Hadley D et al.	2010	Investigative ophthalmology & visual science
19958499	A particle swarm based hybrid system for imbalanced medical data sampling.	Yang P et al.	2009	BMC genomics
19961953	The pivotal role of the complement system in aging and age-related macular degeneration: hypothesis re-visited.	Anderson DH et al.	2010	Progress in retinal and eye research
20090210	Mediators of ocular angiogenesis.	Qazi Y et al.	2009	Journal of genetics
20140183	Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.	Yang Z et al.	2010	PLoS genetics
20157352	Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.	Goto A et al.	2009	Journal of ocular biology, diseases, and informatics
20157618	Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.	McKay GJ et al.	2010	Molecular vision
20182747	Analysis of the indel at the ARMS2 3'UTR in age-related macular degeneration.	Wang G et al.	2010	Human genetics
20207970	Identification of novel substrates for the serine protease HTRA1 in the human RPE secretome.	An E et al.	2010	Investigative ophthalmology & visual science
20339564	Risk factors for age-related maculopathy.	Connell PP et al.	2009	Journal of ophthalmology
20346514	C-reactive protein and CFH, ARMS2/HTRA1 gene variants are independently associated with risk of macular degeneration.	Seddon JM et al.	2010	Ophthalmology
20374233	Analysis of single nucleotide polymorphisms in the NOS2A gene and interaction with smoking in age-related macular degeneration.	Ayala-Haedo JA et al.	2010	Annals of human genetics
20378180	Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.	Lima LH et al.	2010	Ophthalmology
20381870	Progression of geographic atrophy and genotype in age-related macular degeneration.	Klein ML et al.	2010	Ophthalmology
20385826	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Neale BM et al.	2010	Proceedings of the National Academy of Sciences of the United States of America
20413980	Genome-wide conditional search for epistatic disease-predisposing variants in human association studies.	Wang G et al.	2010	Human heredity
20456446	LOC387715/HTRA1 polymorphisms, smoking and combined effects on exudative age-related macular degeneration in a Korean population.	Lee SJ et al.	2010	Clinical & experimental ophthalmology
20606025	The effect of genetic variants in SERPING1 on the risk of neovascular age-related macular degeneration.	Lee AY et al.	2010	The British journal of ophthalmology
20664794	Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina.	Kanda A et al.	2010	Molecular vision
20664795	R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population.	Zerbib J et al.	2010	Molecular vision
20688737	Joint effect of cigarette smoking and CFH and LOC387715/HTRA1 polymorphisms on polypoidal choroidal vasculopathy.	Nakanishi H et al.	2010	Investigative ophthalmology & visual science
20689796	Monozygotic twins with polypoidal choroidal vasuculopathy.	Machida S et al.	2010	Clinical ophthalmology (Auckland, N.Z.)
20861866	Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.	Kopplin LJ et al.	2010	Genes and immunity
20881291	Persons with age-related maculopathy risk genotypes and clinically normal eyes have reduced mesopic vision.	Feigl B et al.	2011	Investigative ophthalmology & visual science
20888482	Serum lipid biomarkers and hepatic lipase gene associations with age-related macular degeneration.	Reynolds R et al.	2010	Ophthalmology
20961462	A genetic ensemble approach for gene-gene interaction identification.	Yang P et al.	2010	BMC bioinformatics
21031019	LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: A HuGE review and meta-analysis.	Tong Y et al.	2010	Molecular vision
21045241	Age-related macular degeneration: genetic and environmental factors of disease.	Chen Y et al.	2010	Molecular interventions
21067572	Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy.	Balasubbu S et al.	2010	BMC medical genetics
21072178	The ERCC6 gene and age-related macular degeneration.	Baas DC et al.	2010	PloS one
21122828	ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration.	Sobrin L et al.	2011	American journal of ophthalmology
21139980	Associations of smoking, body mass index, dietary lutein, and the LIPC gene variant rs10468017 with advanced age-related macular degeneration.	Seddon JM et al.	2010	Molecular vision
21151600	Involvement of genetic factors in the response to a variable-dosing ranibizumab treatment regimen for age-related macular degeneration.	Teper SJ et al.	2010	Molecular vision
21203342	Elevated C-reactive protein levels and ARMS2/HTRA1 gene variants in subjects without age-related macular degeneration.	Yasuma TR et al.	2010	Molecular vision
21236409	Polymorphisms in ARMS2 (LOC387715) and LOXL1 genes in the Japanese with age-related macular degeneration.	Fuse N et al.	2011	American journal of ophthalmology
21252205	Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.	Friedrich U et al.	2011	Human molecular genetics
21397333	Role of complement factor H I62V and age-related maculopathy susceptibility 2 A69S variants in the clinical expression of polypoidal choroidal vasculopathy.	Sakurada Y et al.	2011	Ophthalmology
21402993	Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.	Chen Y et al.	2011	Archives of ophthalmology (Chicago, Ill.
21407270	Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.	Janssens AC et al.	2011	European journal of human genetics
21424820	Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.	Janssens AC et al.	2011	European journal of epidemiology
21447678	Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration.	Yu Y et al.	2011	Investigative ophthalmology & visual science
21455292	Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration.	Spencer KL et al.	2011	PloS one
21541267	Complement factor B polymorphism 32W protects against age-related macular degeneration.	Hughes AE et al.	2011	Molecular vision
21609220	Genetics of age-related macular degeneration: current concepts, future directions.	Deangelis MM et al.	2011	Seminars in ophthalmology
21620475	Smoking, dietary betaine, methionine, and vitamin D in monozygotic twins with discordant macular degeneration: epigenetic implications.	Seddon JM et al.	2011	Ophthalmology
21654887	Age-related macular degeneration.	Querques G et al.	2011	Clinical ophthalmology (Auckland, N.Z.)
21665990	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Yu Y et al.	2011	Human molecular genetics
21670343	Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids: the Rotterdam study.	Ho L et al.	2011	Archives of ophthalmology (Chicago, Ill.
21684273	Retinal pigment epithelial expression of complement regulator CD46 is altered early in the course of geographic atrophy.	Vogt SD et al.	2011	Experimental eye research
21797996	Predictive genetic testing for the identification of high-risk groups: a simulation study on the impact of predictive ability.	Mihaescu R et al.	2011	Genome medicine
21807600	Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration.	Hageman GS et al.	2011	Human genomics
21878851	Association between high-risk disease loci and response to anti-vascular endothelial growth factor treatment for wet age-related macular degeneration.	Orlin A et al.	2012	Retina (Philadelphia, Pa.)
21887094	Update on the role of genetics in the onset of age-related macular degeneration.	Francis PJ et al.	2011	Clinical ophthalmology (Auckland, N.Z.)
21896867	Associations of complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes with subtypes of polypoidal choroidal vasculopathy.	Tanaka K et al.	2011	Investigative ophthalmology & visual science
21906714	Evaluation of new and established age-related macular degeneration susceptibility genes in the Women's Health Initiative Sight Exam (WHI-SE) Study.	Peter I et al.	2011	American journal of ophthalmology
21958005	Multilocus association mapping using generalized ridge logistic regression.	Liu Z et al.	2011	BMC bioinformatics
21959373	Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors.	Seddon JM et al.	2011	Ophthalmology
22035603	Plasma biomarkers of oxidative stress and genetic variants in age-related macular degeneration.	Brantley MA Jr et al.	2012	American journal of ophthalmology
22049084	High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-β family member growth differentiation factor 6.	Zhang L et al.	2012	The Journal of biological chemistry
22065928	Analysis of candidate genes for age-related macular degeneration subtypes in the Japanese population.	Tanaka K et al.	2011	Molecular vision
22155603	Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration.	Morrison MA et al.	2011	Human genomics
22174912	A common complement C3 variant is associated with protection against wet age-related macular degeneration in a Japanese population.	Yanagisawa S et al.	2011	PloS one
22247473	Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models.	Yu Y et al.	2012	Investigative ophthalmology & visual science
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27841854	Protective effects of an HTRA1 insertion-deletion variant against age-related macular degeneration in the Chinese populations.	Ng TK et al.	2017	Laboratory investigation; a journal of technical methods and pathology
28002601	Effect of ARMS2 gene polymorphism on intravitreal ranibizumab treatment for neovascular age-related macular degeneration.	Bardak H et al.	2016	Genetics and molecular research
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28128407	Next-generation sequencing analysis of the ARMS2 gene in Turkish exudative age-related macular degeneration patients.	Bardak H et al.	2017	Genetics and molecular research
28251353	Prevalence and characteristics of pseudodrusen subtypes in advanced age-related macular degeneration.	Shijo T et al.	2017	Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
28266609	Incidence and risk factors of retreatment after three-monthly aflibercept therapy for exudative age-related macular degeneration.	Kikushima W et al.	2017	Scientific reports
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28761324	ARMS2 variants may predict the 3-year outcome of photodynamic therapy for wet age-related macular degeneration.	Nakai S et al.	2017	Molecular vision
28794612	Investigation of associations of ARMS2, CD14, and TLR4 gene polymorphisms with wet age-related macular degeneration in a Greek population.	Sarli A et al.	2017	Clinical ophthalmology (Auckland, N.Z.)
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28912512	Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.	Cascella R et al.	2018	Eye (London, England)
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29453225	Prevalence of age-related macular degeneration associated genetic risk factors and 4-year progression data in the Irish population.	Connolly E et al.	2018	The British journal of ophthalmology
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30795802	Association of HTRA1 and ARMS2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age-related macular degenerative subjects.	Mohamad NA et al.	2019	Human genomics
30895599	Association of rs10490924 in ARMS2/HTRA1 with age-related macular degeneration in the Pakistani population.	Ayub H et al.	2019	Annals of human genetics
31047378	Joint Contribution of Genetic Susceptibility and Modifiable Factors to the Progression of Age-Related Macular Degeneration over 10 Years: The Three Continent AMD Consortium Report.	Joachim N et al.	2018	Ophthalmology. Retina
31258967	Genetically-guided algorithm development and sample size optimization for age-related macular degeneration cases and controls in electronic health records from the VA Million Veteran Program.	Halladay CW et al.	2019	AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science
31331787	Predictive Genes for the Prognosis of Central Serous Chorioretinopathy.	Hosoda Y et al.	2019	Ophthalmology. Retina
31358387	No CFH or ARMS2 Interaction with Omega-3 Fatty Acids, Low versus High Zinc, or β-Carotene versus Lutein and Zeaxanthin on Progression of Age-Related Macular Degeneration in the Age-Related Eye Disease Study 2: Age-Related Eye Disease Study 2 Report No. 18.	van Asten F et al.	2019	Ophthalmology
31376050	Association of an age-related maculopathy susceptibility 2 gene variant with the 12-month outcomes of intravitreal aflibercept combined with photodynamic therapy for polypoidal choroidal vasculopathy.	Nakai S et al.	2019	Japanese journal of ophthalmology
31475247	Genetic Epidemiologic Analysis of Hypertensive Retinopathy in an Underrepresented and Rare Federally Recognized Native American Population of the Intermountain West.	Hicks PM et al.	2019	Journal of community medicine & public health
31558345	Prevalence, Risk, and Genetic Association of Reticular Pseudodrusen in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 Report 21.	Domalpally A et al.	2019	Ophthalmology
31635417	Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.	Shoshany N et al.	2019	Genes
31815877	GENETIC RISK FACTORS IN SEVERE, NONSEVERE AND ACUTE PHENOTYPES OF CENTRAL SEROUS CHORIORETINOPATHY.	Mohabati D et al.	2020	Retina (Philadelphia, Pa.)
31819893	Do age-related macular degeneration genes show association with keratoconus?	Cao K et al.	2019	Eye and vision (London, England)
31916060	Investigation of genetic base in the treatment of age-related macular degeneration.	Gourgouli K et al.	2020	International ophthalmology
31942429	Genetic association with intravitreal ranibizumab response for neovascular age-related macular degeneration in Hispanic population.	Rodríguez FJ et al.	2019	Taiwan journal of ophthalmology
31970928	An association of neovascular age-related macular degeneration with polymorphisms of CFH, ARMS2, HTRA1 and C3 genes in Czech population.	Matušková V et al.	2020	Acta ophthalmologica
31988359	Association of Irregular Pigment Epithelial Detachment in Central Serous Chorioretinopathy with Genetic Variants Implicated in Age-related Macular Degeneration.	Cho SC et al.	2020	Scientific reports
32138827	Distribution of risk alleles in patients with age-related macular degeneration.	Nielsen MK et al.	2020	Danish medical journal
32163116	Incidence and Risk Factors of Reticular Pseudodrusen Using Multimodal Imaging.	Dutheil C et al.	2020	JAMA ophthalmology
32231278	Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.	Hysi PG et al.	2020	Nature genetics
32346038	Genetic factors associated with response to as-needed aflibercept therapy for typical neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.	Yoneyama S et al.	2020	Scientific reports
32406777	Association of combined complement factor H Y402H and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: an updated meta-analysis.	Jabbarpoor Bonyadi MH et al.	2020	Ophthalmic genetics
32407518	Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.	Merle BMJ et al.	2020	Investigative ophthalmology & visual science
32774081	Genetic factors associated with treatment response to reduced-fluence photodynamic therapy for chronic central serous chorioretinopathy.	Hayashida M et al.	2020	Molecular vision
32777973	rs10490924 surrounding HTRA1/ARMS2 regulates the susceptibility of age-related macular degeneration.	Tang M et al.	2021	Journal of receptor and signal transduction research
32962278	Association between Polygenic Risk Score and One-Year Outcomes Following As-Needed Aflibercept Therapy for Exudative Age-Related Macular Degeneration.	Shijo T et al.	2020	Pharmaceuticals (Basel, Switzerland)
33210016	Baseline characteristics and age-related macular degeneration in participants of the "ASPirin in Reducing Events in the Elderly" (ASPREE)-AMD trial.	Robman LD et al.	2020	Contemporary clinical trials communications
33279454	Ten-Year Progression From Intermediate to Exudative Age-Related Macular Degeneration and Risk Factors: Bundang AMD Cohort Study Report 1.	Joo K et al.	2021	American journal of ophthalmology
33320170	The Effect of Genetic Variants Associated With Age-Related Macular Degeneration Varies With Age.	Schick T et al.	2020	Investigative ophthalmology & visual science
33369641	Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration.	Seddon JM et al.	2020	Investigative ophthalmology & visual science
33426217	Comparison of machine learning tools for the prediction of AMD based on genetic, age, and diabetes-related variables in the Chinese population.	Hao S et al.	2020	Regenerative therapy
33765843	Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population.	Gili P et al.	2022	European journal of ophthalmology
33946050	Untargeted metabolomics for uncovering plasma biological markers of wet age-related macular degeneration.	Deng Y et al.	2021	Aging
34403208	Genetic associations of anti-vascular endothelial growth factor therapy response in age-related macular degeneration: a systematic review and meta-analysis.	Wang Z et al.	2022	Acta ophthalmologica
34563268	Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci.	Pappas CM et al.	2021	Human genomics
34834388	Genetic Polymorphisms Affecting Ranibizumab Response in High Myopia Patients.	Blánquez-Martínez D et al.	2021	Pharmaceutics
35136347	Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study.	Altay L et al.	2021	Molecular vision
35657810	Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients.	Rim PHH et al.	2022	PloS one
35884963	Association between Polymorphisms in CFH, ARMS2, CFI, and C3 Genes and Response to Anti-VEGF Treatment in Neovascular Age-Related Macular Degeneration.	Kozhevnikova OS et al.	2022	Biomedicines
36036675	Common and rare genetic risk variants in age-related macular degeneration and genetic risk score in the Coimbra eye study.	Farinha C et al.	2023	Acta ophthalmologica

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs10490924