Name: rs4581
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.

rs4581

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:66214639 (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: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.384726 (101833/264690, TOPMED)
A=0.261385 (68406/261706, ALFA)
A=0.352561 (49317/139882, GnomAD) (+ 24 more)
C=0.48014 (37785/78696, PAGE_STUDY)
C=0.22567 (6377/28258, 14KJPN)
C=0.22983 (3852/16760, 8.3KJPN)
A=0.32969 (4288/13006, GO-ESP)
C=0.4625 (2962/6404, 1000G_30x)
C=0.4585 (2296/5008, 1000G)
A=0.2469 (1106/4480, Estonian)
A=0.2369 (913/3854, ALSPAC)
A=0.2322 (861/3708, TWINSUK)
C=0.1857 (544/2930, KOREAN)
C=0.4520 (942/2084, HGDP_Stanford)
C=0.4651 (880/1892, HapMap)
C=0.1949 (357/1832, Korea1K)
A=0.209 (209/998, GoNL)
C=0.221 (175/792, PRJEB37584)
C=0.326 (200/614, Vietnamese)
A=0.257 (154/600, NorthernSweden)
A=0.243 (130/534, MGP)
C=0.227 (97/428, SGDP_PRJ)
A=0.217 (66/304, FINRISK)
A=0.338 (73/216, Qatari)
A=0.15 (6/40, GENOME_DK)
A=0.05 (2/38, Ancient Sardinia)
C=0.38 (13/34, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: APOH : Missense Variant
Publications: 5 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	278200	C=0.734982	A=0.265018, G=0.000000, T=0.000000	0.556341	0.086377	0.357283	32
European	Sub	231954	C=0.771890	A=0.228110, G=0.000000, T=0.000000	0.597412	0.053631	0.348957	6
African	Sub	11286	C=0.52259	A=0.47741, G=0.00000, T=0.00000	0.293993	0.248804	0.457204	21
African Others	Sub	402	C=0.470	A=0.530, G=0.000, T=0.000	0.263682	0.323383	0.412935	4
African American	Sub	10884	C=0.52453	A=0.47547, G=0.00000, T=0.00000	0.295112	0.246049	0.458839	19
Asian	Sub	6620	C=0.2150	A=0.7850, G=0.0000, T=0.0000	0.047734	0.617825	0.334441	0
East Asian	Sub	4754	C=0.2152	A=0.7848, G=0.0000, T=0.0000	0.049642	0.619268	0.33109	1
Other Asian	Sub	1866	C=0.2144	A=0.7856, G=0.0000, T=0.0000	0.042872	0.614148	0.34298	0
Latin American 1	Sub	928	C=0.677	A=0.323, G=0.000, T=0.000	0.478448	0.125	0.396552	3
Latin American 2	Sub	5322	C=0.4718	A=0.5282, G=0.0000, T=0.0000	0.232995	0.289365	0.47764	3
South Asian	Sub	288	C=0.545	A=0.455, G=0.000, T=0.000	0.326389	0.236111	0.4375	1
Other	Sub	21802	C=0.67939	A=0.32061, G=0.00000, T=0.00000	0.494909	0.136134	0.368957	32

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.615274	A=0.384726
Allele Frequency Aggregator	Total	Global	261706	C=0.738615	A=0.261385, G=0.000000, T=0.000000
Allele Frequency Aggregator	European	Sub	221750	C=0.772144	A=0.227856, G=0.000000, T=0.000000
Allele Frequency Aggregator	Other	Sub	20350	C=0.67607	A=0.32393, G=0.00000, T=0.00000
Allele Frequency Aggregator	Asian	Sub	6620	C=0.2150	A=0.7850, G=0.0000, T=0.0000
Allele Frequency Aggregator	African	Sub	6448	C=0.5583	A=0.4417, G=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	5322	C=0.4718	A=0.5282, G=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	928	C=0.677	A=0.323, G=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	288	C=0.545	A=0.455, G=0.000, T=0.000
gnomAD - Genomes	Global	Study-wide	139882	C=0.647439	A=0.352561
gnomAD - Genomes	European	Sub	75784	C=0.76359	A=0.23641
gnomAD - Genomes	African	Sub	41888	C=0.49031	A=0.50969
gnomAD - Genomes	American	Sub	13622	C=0.55109	A=0.44891
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.7527	A=0.2473
gnomAD - Genomes	East Asian	Sub	3120	C=0.2490	A=0.7510
gnomAD - Genomes	Other	Sub	2148	C=0.6406	A=0.3594
The PAGE Study	Global	Study-wide	78696	C=0.48014	A=0.51986
The PAGE Study	AfricanAmerican	Sub	32514	C=0.49240	A=0.50760
The PAGE Study	Mexican	Sub	10810	C=0.48076	A=0.51924
The PAGE Study	Asian	Sub	8318	C=0.2403	A=0.7597
The PAGE Study	PuertoRican	Sub	7916	C=0.5954	A=0.4046
The PAGE Study	NativeHawaiian	Sub	4534	C=0.3476	A=0.6524
The PAGE Study	Cuban	Sub	4230	C=0.6856	A=0.3144
The PAGE Study	Dominican	Sub	3828	C=0.6139	A=0.3861
The PAGE Study	CentralAmerican	Sub	2450	C=0.4245	A=0.5755
The PAGE Study	SouthAmerican	Sub	1980	C=0.4470	A=0.5530
The PAGE Study	NativeAmerican	Sub	1260	C=0.5952	A=0.4048
The PAGE Study	SouthAsian	Sub	856	C=0.426	A=0.574
14KJPN	JAPANESE	Study-wide	28258	C=0.22567	A=0.77433
8.3KJPN	JAPANESE	Study-wide	16760	C=0.22983	A=0.77017
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.67031	A=0.32969
GO Exome Sequencing Project	European American	Sub	8600	C=0.7624	A=0.2376
GO Exome Sequencing Project	African American	Sub	4406	C=0.4905	A=0.5095
1000Genomes_30x	Global	Study-wide	6404	C=0.4625	A=0.5375
1000Genomes_30x	African	Sub	1786	C=0.4479	A=0.5521
1000Genomes_30x	Europe	Sub	1266	C=0.7780	A=0.2220
1000Genomes_30x	South Asian	Sub	1202	C=0.3702	A=0.6298
1000Genomes_30x	East Asian	Sub	1170	C=0.2444	A=0.7556
1000Genomes_30x	American	Sub	980	C=0.455	A=0.545
1000Genomes	Global	Study-wide	5008	C=0.4585	A=0.5415
1000Genomes	African	Sub	1322	C=0.4531	A=0.5469
1000Genomes	East Asian	Sub	1008	C=0.2460	A=0.7540
1000Genomes	Europe	Sub	1006	C=0.7684	A=0.2316
1000Genomes	South Asian	Sub	978	C=0.365	A=0.635
1000Genomes	American	Sub	694	C=0.460	A=0.540
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7531	A=0.2469
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7631	A=0.2369
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7678	A=0.2322
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.1857	A=0.8143, G=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.4520	A=0.5480
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.191	A=0.809
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.517	A=0.483
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.677	A=0.323
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.762	A=0.237
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.512	A=0.488
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.130	A=0.870
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.07	A=0.93
HapMap	Global	Study-wide	1892	C=0.4651	A=0.5349
HapMap	American	Sub	770	C=0.509	A=0.491
HapMap	African	Sub	692	C=0.441	A=0.559
HapMap	Asian	Sub	254	C=0.209	A=0.791
HapMap	Europe	Sub	176	C=0.739	A=0.261
Korean Genome Project	KOREAN	Study-wide	1832	C=0.1949	A=0.8051
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.791	A=0.209
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.221	A=0.779
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.221	A=0.779
A Vietnamese Genetic Variation Database	Global	Study-wide	614	C=0.326	A=0.674
Northern Sweden	ACPOP	Study-wide	600	C=0.743	A=0.257
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.757	A=0.243
SGDP_PRJ	Global	Study-wide	428	C=0.227	A=0.773
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.783	A=0.217
Qatari	Global	Study-wide	216	C=0.662	A=0.338
The Danish reference pan genome	Danish	Study-wide	40	C=0.85	A=0.15
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	38	C=0.95	A=0.05
Siberian	Global	Study-wide	34	C=0.38	A=0.62

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 17	NC_000017.11:g.66214639C>A
GRCh38.p14 chr 17	NC_000017.11:g.66214639C>G
GRCh38.p14 chr 17	NC_000017.11:g.66214639C>T
GRCh37.p13 chr 17	NC_000017.10:g.64210757C>A
GRCh37.p13 chr 17	NC_000017.10:g.64210757C>G
GRCh37.p13 chr 17	NC_000017.10:g.64210757C>T
APOH RefSeqGene	NG_012045.1:g.19800G>T
APOH RefSeqGene	NG_012045.1:g.19800G>C
APOH RefSeqGene	NG_012045.1:g.19800G>A

Gene: APOH, apolipoprotein H (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
APOH transcript	NM_000042.3:c.796G>T	V [GTA] > L [TTA]	Coding Sequence Variant
beta-2-glycoprotein 1 precursor	NP_000033.2:p.Val266Leu	V (Val) > L (Leu)	Missense Variant
APOH transcript	NM_000042.3:c.796G>C	V [GTA] > L [CTA]	Coding Sequence Variant
beta-2-glycoprotein 1 precursor	NP_000033.2:p.Val266Leu	V (Val) > L (Leu)	Missense Variant
APOH transcript	NM_000042.3:c.796G>A	V [GTA] > I [ATA]	Coding Sequence Variant
beta-2-glycoprotein 1 precursor	NP_000033.2:p.Val266Ile	V (Val) > I (Ile)	Missense 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: A (allele ID: 31081 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000017417.2	APOH POLYMORPHISM	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	C=	A	G	T
GRCh38.p14 chr 17	NC_000017.11:g.66214639=	NC_000017.11:g.66214639C>A	NC_000017.11:g.66214639C>G	NC_000017.11:g.66214639C>T
GRCh37.p13 chr 17	NC_000017.10:g.64210757=	NC_000017.10:g.64210757C>A	NC_000017.10:g.64210757C>G	NC_000017.10:g.64210757C>T
APOH RefSeqGene	NG_012045.1:g.19800=	NG_012045.1:g.19800G>T	NG_012045.1:g.19800G>C	NG_012045.1:g.19800G>A
APOH transcript	NM_000042.3:c.796=	NM_000042.3:c.796G>T	NM_000042.3:c.796G>C	NM_000042.3:c.796G>A
APOH transcript	NM_000042.2:c.796=	NM_000042.2:c.796G>T	NM_000042.2:c.796G>C	NM_000042.2:c.796G>A
beta-2-glycoprotein 1 precursor	NP_000033.2:p.Val266=	NP_000033.2:p.Val266Leu	NP_000033.2:p.Val266Leu	NP_000033.2:p.Val266Ile

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#.

179 SubSNP, 31 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGBASE	ss2419865	Nov 14, 2000 (102)
2	YUSUKE	ss3227319	Sep 28, 2001 (102)
3	LEE	ss4390671	May 29, 2002 (130)
4	PGA-UW-FHCRC	ss9807040	Aug 26, 2003 (130)
5	CSHL-HAPMAP	ss19367301	Feb 27, 2004 (130)
6	PERLEGEN	ss23636032	Sep 20, 2004 (130)
7	ABI	ss44047208	Mar 13, 2006 (130)
8	APPLERA_GI	ss48425430	Mar 13, 2006 (130)
9	PGA-UW-FHCRC	ss52086148	Oct 13, 2006 (130)
10	ILLUMINA	ss66616004	Nov 29, 2006 (130)
11	ILLUMINA	ss67292303	Nov 29, 2006 (130)
12	ILLUMINA	ss67696039	Nov 29, 2006 (130)
13	PERLEGEN	ss69200110	May 16, 2007 (130)
14	ILLUMINA	ss70770895	May 26, 2008 (130)
15	ILLUMINA	ss71346174	May 16, 2007 (130)
16	AFFY	ss74809956	Aug 16, 2007 (130)
17	ILLUMINA	ss75478792	Dec 06, 2007 (129)
18	AFFY	ss76545574	Dec 08, 2007 (130)
19	ILLUMINA	ss79159681	Dec 15, 2007 (130)
20	HGSV	ss83872955	Dec 15, 2007 (130)
21	KRIBB_YJKIM	ss84156134	Dec 15, 2007 (130)
22	HGSV	ss85457531	Dec 15, 2007 (130)
23	BCMHGSC_JDW	ss90640558	Mar 24, 2008 (129)
24	BGI	ss103356825	Dec 01, 2009 (131)
25	1000GENOMES	ss113740573	Jan 25, 2009 (130)
26	ILLUMINA-UK	ss118104802	Feb 14, 2009 (130)
27	ILLUMINA	ss120036659	Dec 01, 2009 (131)
28	ILLUMINA	ss122178164	Dec 01, 2009 (131)
29	ENSEMBL	ss132629160	Dec 01, 2009 (131)
30	ENSEMBL	ss137152459	Dec 01, 2009 (131)
31	ILLUMINA	ss154256307	Dec 01, 2009 (131)
32	ILLUMINA	ss159432901	Dec 01, 2009 (131)
33	SEATTLESEQ	ss159736132	Dec 01, 2009 (131)
34	ILLUMINA	ss160615221	Dec 01, 2009 (131)
35	COMPLETE_GENOMICS	ss170031893	Jul 04, 2010 (132)
36	ILLUMINA	ss171556978	Jul 04, 2010 (132)
37	COMPLETE_GENOMICS	ss171638780	Jul 04, 2010 (132)
38	ILLUMINA	ss173571981	Jul 04, 2010 (132)
39	BUSHMAN	ss202700035	Jul 04, 2010 (132)
40	1000GENOMES	ss227621492	Jul 14, 2010 (132)
41	1000GENOMES	ss237297455	Jul 15, 2010 (132)
42	1000GENOMES	ss243580815	Jul 15, 2010 (132)
43	ILLUMINA	ss244294035	Jul 04, 2010 (132)
44	GMI	ss282817412	May 04, 2012 (137)
45	GMI	ss287203790	Apr 25, 2013 (138)
46	PJP	ss291981942	May 09, 2011 (134)
47	NHLBI-ESP	ss342461999	May 09, 2011 (134)
48	ILLUMINA	ss410822227	Sep 17, 2011 (135)
49	ILLUMINA	ss480765222	May 04, 2012 (137)
50	ILLUMINA	ss480781061	May 04, 2012 (137)
51	ILLUMINA	ss481675262	Sep 08, 2015 (146)
52	ILLUMINA	ss485177331	May 04, 2012 (137)
53	1000GENOMES	ss491129933	May 04, 2012 (137)
54	EXOME_CHIP	ss491526546	May 04, 2012 (137)
55	CLINSEQ_SNP	ss491741807	May 04, 2012 (137)
56	ILLUMINA	ss537166810	Sep 08, 2015 (146)
57	NCBI-CURATED-RECORDS	ss537712927	Jan 04, 2013 (137)
58	TISHKOFF	ss565364231	Apr 25, 2013 (138)
59	SSMP	ss661175904	Apr 25, 2013 (138)
60	ILLUMINA	ss778889545	Aug 21, 2014 (142)
61	ILLUMINA	ss780731406	Sep 08, 2015 (146)
62	ILLUMINA	ss783034842	Aug 21, 2014 (142)
63	ILLUMINA	ss783407805	Sep 08, 2015 (146)
64	ILLUMINA	ss783994408	Aug 21, 2014 (142)
65	ILLUMINA	ss825490199	Apr 01, 2015 (144)
66	ILLUMINA	ss832292498	Apr 01, 2015 (144)
67	ILLUMINA	ss832944499	Aug 21, 2014 (142)
68	ILLUMINA	ss833535329	Aug 21, 2014 (142)
69	ILLUMINA	ss834350641	Aug 21, 2014 (142)
70	JMKIDD_LAB	ss974499924	Aug 21, 2014 (142)
71	EVA-GONL	ss993265279	Aug 21, 2014 (142)
72	JMKIDD_LAB	ss1067574097	Aug 21, 2014 (142)
73	JMKIDD_LAB	ss1081165817	Aug 21, 2014 (142)
74	1000GENOMES	ss1359279406	Aug 21, 2014 (142)
75	DDI	ss1428077287	Apr 01, 2015 (144)
76	EVA_GENOME_DK	ss1578217049	Apr 01, 2015 (144)
77	EVA_FINRISK	ss1584107998	Apr 01, 2015 (144)
78	EVA_UK10K_ALSPAC	ss1635966851	Apr 01, 2015 (144)
79	EVA_UK10K_TWINSUK	ss1678960884	Apr 01, 2015 (144)
80	EVA_DECODE	ss1697313361	Apr 01, 2015 (144)
81	EVA_MGP	ss1711469773	Apr 01, 2015 (144)
82	EVA_SVP	ss1713593172	Apr 01, 2015 (144)
83	ILLUMINA	ss1752235306	Sep 08, 2015 (146)
84	ILLUMINA	ss1752235307	Sep 08, 2015 (146)
85	HAMMER_LAB	ss1808850348	Sep 08, 2015 (146)
86	ILLUMINA	ss1917921606	Feb 12, 2016 (147)
87	WEILL_CORNELL_DGM	ss1936726434	Feb 12, 2016 (147)
88	ILLUMINA	ss1946464415	Feb 12, 2016 (147)
89	ILLUMINA	ss1959762196	Feb 12, 2016 (147)
90	GENOMED	ss1968420327	Jul 19, 2016 (147)
91	JJLAB	ss2029135441	Sep 14, 2016 (149)
92	USC_VALOUEV	ss2157617485	Dec 20, 2016 (150)
93	HUMAN_LONGEVITY	ss2218093145	Dec 20, 2016 (150)
94	SYSTEMSBIOZJU	ss2629061777	Nov 08, 2017 (151)
95	ILLUMINA	ss2633414962	Nov 08, 2017 (151)
96	GRF	ss2702181081	Nov 08, 2017 (151)
97	ILLUMINA	ss2710855263	Nov 08, 2017 (151)
98	GNOMAD	ss2749842877	Nov 08, 2017 (151)
99	GNOMAD	ss2951721287	Nov 08, 2017 (151)
100	AFFY	ss2985102528	Nov 08, 2017 (151)
101	SWEGEN	ss3015794389	Nov 08, 2017 (151)
102	ILLUMINA	ss3021797099	Nov 08, 2017 (151)
103	EVA_SAMSUNG_MC	ss3023070868	Nov 08, 2017 (151)
104	BIOINF_KMB_FNS_UNIBA	ss3028389734	Nov 08, 2017 (151)
105	CSHL	ss3351809175	Nov 08, 2017 (151)
106	ILLUMINA	ss3627705265	Oct 12, 2018 (152)
107	ILLUMINA	ss3627705266	Oct 12, 2018 (152)
108	ILLUMINA	ss3631394940	Oct 12, 2018 (152)
109	ILLUMINA	ss3633146401	Oct 12, 2018 (152)
110	ILLUMINA	ss3633854241	Oct 12, 2018 (152)
111	ILLUMINA	ss3634683408	Oct 12, 2018 (152)
112	ILLUMINA	ss3634683409	Oct 12, 2018 (152)
113	ILLUMINA	ss3635541887	Oct 12, 2018 (152)
114	ILLUMINA	ss3636372504	Oct 12, 2018 (152)
115	ILLUMINA	ss3637293453	Oct 12, 2018 (152)
116	ILLUMINA	ss3638170973	Oct 12, 2018 (152)
117	ILLUMINA	ss3639093645	Oct 12, 2018 (152)
118	ILLUMINA	ss3639554135	Oct 12, 2018 (152)
119	ILLUMINA	ss3640390718	Oct 12, 2018 (152)
120	ILLUMINA	ss3640390719	Oct 12, 2018 (152)
121	ILLUMINA	ss3643148785	Oct 12, 2018 (152)
122	ILLUMINA	ss3644693377	Oct 12, 2018 (152)
123	OMUKHERJEE_ADBS	ss3646515267	Oct 12, 2018 (152)
124	URBANLAB	ss3650687295	Oct 12, 2018 (152)
125	ILLUMINA	ss3652214995	Oct 12, 2018 (152)
126	ILLUMINA	ss3653874278	Oct 12, 2018 (152)
127	EGCUT_WGS	ss3682662138	Jul 13, 2019 (153)
128	EVA_DECODE	ss3700780270	Jul 13, 2019 (153)
129	ILLUMINA	ss3725636601	Jul 13, 2019 (153)
130	ACPOP	ss3742157372	Jul 13, 2019 (153)
131	ILLUMINA	ss3744448088	Jul 13, 2019 (153)
132	ILLUMINA	ss3744983664	Jul 13, 2019 (153)
133	ILLUMINA	ss3744983665	Jul 13, 2019 (153)
134	EVA	ss3754851126	Jul 13, 2019 (153)
135	PAGE_CC	ss3771939637	Jul 13, 2019 (153)
136	ILLUMINA	ss3772481422	Jul 13, 2019 (153)
137	ILLUMINA	ss3772481423	Jul 13, 2019 (153)
138	KHV_HUMAN_GENOMES	ss3820117050	Jul 13, 2019 (153)
139	EVA	ss3825143367	Apr 27, 2020 (154)
140	EVA	ss3825531663	Apr 27, 2020 (154)
141	EVA	ss3825546350	Apr 27, 2020 (154)
142	EVA	ss3825904999	Apr 27, 2020 (154)
143	EVA	ss3834943928	Apr 27, 2020 (154)
144	EVA	ss3841083783	Apr 27, 2020 (154)
145	EVA	ss3846581616	Apr 27, 2020 (154)
146	HGDP	ss3847568422	Apr 27, 2020 (154)
147	SGDP_PRJ	ss3886075877	Apr 27, 2020 (154)
148	KRGDB	ss3935829485	Apr 27, 2020 (154)
149	KOGIC	ss3979160061	Apr 27, 2020 (154)
150	FSA-LAB	ss3984121463	Apr 26, 2021 (155)
151	EVA	ss3984725489	Apr 26, 2021 (155)
152	EVA	ss3985799282	Apr 26, 2021 (155)
153	EVA	ss3986075609	Apr 26, 2021 (155)
154	EVA	ss3986738003	Apr 26, 2021 (155)
155	TOPMED	ss5041596554	Apr 26, 2021 (155)
156	TOMMO_GENOMICS	ss5223168565	Apr 26, 2021 (155)
157	EVA	ss5236945610	Apr 26, 2021 (155)
158	EVA	ss5237669640	Oct 16, 2022 (156)
159	1000G_HIGH_COVERAGE	ss5303697009	Oct 16, 2022 (156)
160	TRAN_CS_UWATERLOO	ss5314449026	Oct 16, 2022 (156)
161	EVA	ss5315896664	Oct 16, 2022 (156)
162	EVA	ss5428601270	Oct 16, 2022 (156)
163	HUGCELL_USP	ss5496682245	Oct 16, 2022 (156)
164	EVA	ss5511810443	Oct 16, 2022 (156)
165	1000G_HIGH_COVERAGE	ss5607691801	Oct 16, 2022 (156)
166	EVA	ss5624075037	Oct 16, 2022 (156)
167	SANFORD_IMAGENETICS	ss5660411466	Oct 16, 2022 (156)
168	TOMMO_GENOMICS	ss5779619624	Oct 16, 2022 (156)
169	EVA	ss5799979574	Oct 16, 2022 (156)
170	YY_MCH	ss5816670807	Oct 16, 2022 (156)
171	EVA	ss5834195565	Oct 16, 2022 (156)
172	EVA	ss5847804346	Oct 16, 2022 (156)
173	EVA	ss5848456074	Oct 16, 2022 (156)
174	EVA	ss5851867535	Oct 16, 2022 (156)
175	EVA	ss5914560129	Oct 16, 2022 (156)
176	EVA	ss5936568672	Oct 16, 2022 (156)
177	EVA	ss5951806884	Oct 16, 2022 (156)
178	EVA	ss5980978042	Oct 16, 2022 (156)
179	EVA	ss5981303100	Oct 16, 2022 (156)
180	1000Genomes	NC_000017.10 - 64210757	Oct 12, 2018 (152)
181	1000Genomes_30x	NC_000017.11 - 66214639	Oct 16, 2022 (156)
182	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 64210757	Oct 12, 2018 (152)
183	Genetic variation in the Estonian population	NC_000017.10 - 64210757	Oct 12, 2018 (152)
184	ExAC Submission ignored due to conflicting rows: Row 3378486 (NC_000017.10:64210756:C:C 75969/121320, NC_000017.10:64210756:C:A 45351/121320) Row 3378488 (NC_000017.10:64210756:C:C 121319/121320, NC_000017.10:64210756:C:G 1/121320)	-	Oct 12, 2018 (152)
185	ExAC Submission ignored due to conflicting rows: Row 3378486 (NC_000017.10:64210756:C:C 75969/121320, NC_000017.10:64210756:C:A 45351/121320) Row 3378488 (NC_000017.10:64210756:C:C 121319/121320, NC_000017.10:64210756:C:G 1/121320)	-	Oct 12, 2018 (152)
186	FINRISK	NC_000017.10 - 64210757	Apr 27, 2020 (154)
187	The Danish reference pan genome	NC_000017.10 - 64210757	Apr 27, 2020 (154)
188	gnomAD - Genomes	NC_000017.11 - 66214639	Apr 26, 2021 (155)
189	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12250843 (NC_000017.10:64210756:C:C 155960/249772, NC_000017.10:64210756:C:A 93812/249772) Row 12250844 (NC_000017.10:64210756:C:C 249771/249772, NC_000017.10:64210756:C:G 1/249772)	-	Jul 13, 2019 (153)
190	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12250843 (NC_000017.10:64210756:C:C 155960/249772, NC_000017.10:64210756:C:A 93812/249772) Row 12250844 (NC_000017.10:64210756:C:C 249771/249772, NC_000017.10:64210756:C:G 1/249772)	-	Jul 13, 2019 (153)
191	GO Exome Sequencing Project	NC_000017.10 - 64210757	Oct 12, 2018 (152)
192	Genome of the Netherlands Release 5	NC_000017.10 - 64210757	Apr 27, 2020 (154)
193	HGDP-CEPH-db Supplement 1	NC_000017.9 - 61641219	Apr 27, 2020 (154)
194	HapMap	NC_000017.11 - 66214639	Apr 27, 2020 (154)
195	KOREAN population from KRGDB	NC_000017.10 - 64210757	Apr 27, 2020 (154)
196	Korean Genome Project	NC_000017.11 - 66214639	Apr 27, 2020 (154)
197	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 64210757	Apr 27, 2020 (154)
198	Northern Sweden	NC_000017.10 - 64210757	Jul 13, 2019 (153)
199	The PAGE Study	NC_000017.11 - 66214639	Jul 13, 2019 (153)
200	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000017.10 - 64210757	Apr 26, 2021 (155)
201	CNV burdens in cranial meningiomas	NC_000017.10 - 64210757	Apr 26, 2021 (155)
202	Qatari	NC_000017.10 - 64210757	Apr 27, 2020 (154)
203	SGDP_PRJ	NC_000017.10 - 64210757	Apr 27, 2020 (154)
204	Siberian	NC_000017.10 - 64210757	Apr 27, 2020 (154)
205	8.3KJPN	NC_000017.10 - 64210757	Apr 26, 2021 (155)
206	14KJPN	NC_000017.11 - 66214639	Oct 16, 2022 (156)
207	TopMed	NC_000017.11 - 66214639	Apr 26, 2021 (155)
208	UK 10K study - Twins	NC_000017.10 - 64210757	Oct 12, 2018 (152)
209	A Vietnamese Genetic Variation Database	NC_000017.10 - 64210757	Jul 13, 2019 (153)
210	ALFA	NC_000017.11 - 66214639	Apr 26, 2021 (155)
211	ClinVar	RCV000017417.2	Oct 12, 2018 (152)

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)
rs1126726	Jan 04, 2002 (102)
rs1799838	Jan 04, 2002 (102)
rs3176975	May 26, 2008 (130)
rs3181939	Oct 08, 2002 (108)
rs17294696	May 26, 2008 (130)
rs17349184	May 26, 2008 (130)
rs52794598	Sep 21, 2007 (128)
rs56543969	May 26, 2008 (130)
rs60793316	May 26, 2008 (130)
rs386580499	Aug 06, 2014 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
246314, ss83872955, ss85457531, ss90640558, ss113740573, ss118104802, ss170031893, ss171638780, ss202700035, ss282817412, ss287203790, ss291981942, ss480765222, ss491741807, ss825490199, ss1697313361, ss1713593172, ss3639093645, ss3639554135, ss3643148785, ss3847568422	NC_000017.9:61641218:C:A	NC_000017.11:66214638:C:A	(self)
72545382, 40197718, 28400386, 104459, 4416971, 1600429, 17910507, 43006879, 585533, 15442237, 1025209, 275037, 18768356, 38092857, 10133839, 81137872, 40197718, 8886714, ss227621492, ss237297455, ss243580815, ss342461999, ss480781061, ss481675262, ss485177331, ss491129933, ss491526546, ss537166810, ss565364231, ss661175904, ss778889545, ss780731406, ss783034842, ss783407805, ss783994408, ss832292498, ss832944499, ss833535329, ss834350641, ss974499924, ss993265279, ss1067574097, ss1081165817, ss1359279406, ss1428077287, ss1578217049, ss1584107998, ss1635966851, ss1678960884, ss1711469773, ss1752235306, ss1752235307, ss1808850348, ss1917921606, ss1936726434, ss1946464415, ss1959762196, ss1968420327, ss2029135441, ss2157617485, ss2629061777, ss2633414962, ss2702181081, ss2710855263, ss2749842877, ss2951721287, ss2985102528, ss3015794389, ss3021797099, ss3023070868, ss3351809175, ss3627705265, ss3627705266, ss3631394940, ss3633146401, ss3633854241, ss3634683408, ss3634683409, ss3635541887, ss3636372504, ss3637293453, ss3638170973, ss3640390718, ss3640390719, ss3644693377, ss3646515267, ss3652214995, ss3653874278, ss3682662138, ss3742157372, ss3744448088, ss3744983664, ss3744983665, ss3754851126, ss3772481422, ss3772481423, ss3825143367, ss3825531663, ss3825546350, ss3825904999, ss3834943928, ss3841083783, ss3886075877, ss3935829485, ss3984121463, ss3984725489, ss3985799282, ss3986075609, ss3986738003, ss5223168565, ss5315896664, ss5428601270, ss5511810443, ss5624075037, ss5660411466, ss5799979574, ss5834195565, ss5847804346, ss5848456074, ss5936568672, ss5951806884, ss5980978042, ss5981303100	NC_000017.10:64210756:C:A	NC_000017.11:66214638:C:A	(self)
RCV000017417.2, 95217736, 511976531, 1515006, 35538062, 1161106, 113456728, 257142216, 54680648, ss537712927, ss2218093145, ss3028389734, ss3650687295, ss3700780270, ss3725636601, ss3771939637, ss3820117050, ss3846581616, ss3979160061, ss5041596554, ss5236945610, ss5237669640, ss5303697009, ss5314449026, ss5496682245, ss5607691801, ss5779619624, ss5816670807, ss5851867535, ss5914560129	NC_000017.11:66214638:C:A	NC_000017.11:66214638:C:A	(self)
ss19367301	NT_010783.14:22939497:C:A	NC_000017.11:66214638:C:A	(self)
ss2419865, ss3227319, ss4390671, ss9807040, ss23636032, ss44047208, ss48425430, ss52086148, ss66616004, ss67292303, ss67696039, ss69200110, ss70770895, ss71346174, ss74809956, ss75478792, ss76545574, ss79159681, ss84156134, ss103356825, ss120036659, ss122178164, ss132629160, ss137152459, ss154256307, ss159432901, ss159736132, ss160615221, ss171556978, ss173571981, ss244294035, ss410822227	NT_010783.15:29484908:C:A	NC_000017.11:66214638:C:A	(self)
43006879, ss3935829485	NC_000017.10:64210756:C:G	NC_000017.11:66214638:C:G	(self)
54680648	NC_000017.11:66214638:C:G	NC_000017.11:66214638:C:G	(self)
54680648	NC_000017.11:66214638:C:T	NC_000017.11:66214638:C:T	(self)

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

5 citations for rs4581

PMID	Title	Author	Year	Journal
8099061	Human beta 2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism.	Steinkasserer A et al.	1993	Human genetics
18676959	Comprehensive evaluation of apolipoprotein H gene (APOH) variation identifies novel associations with measures of lipid metabolism in GENOA.	Leduc MS et al.	2008	Journal of lipid research
23509613	Genome-wide association study of antiphospholipid antibodies.	Kamboh MI et al.	2013	Autoimmune diseases
23820649	Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.	Cooper DN et al.	2013	Human genetics
32896248	Tissue factor and human apolipoprotein H genetic variants and pro-inflammatory cytokines in systemic lupus erythematosus patients.	Wajda A et al.	2021	Clinical and experimental rheumatology

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

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4581