Name: rs486907
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.

rs486907

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:182585422 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.350844 (125393/357404, ALFA)
T=0.262008 (69351/264690, TOPMED)
T=0.305438 (76756/251298, GnomAD_exome) (+ 26 more)
T=0.280623 (39281/139978, GnomAD)
T=0.308922 (37492/121364, ExAC)
T=0.18881 (14854/78672, PAGE_STUDY)
T=0.20018 (5656/28254, 14KJPN)
T=0.20215 (3388/16760, 8.3KJPN)
T=0.2309 (1479/6404, 1000G_30x)
T=0.2306 (1155/5008, 1000G)
T=0.4451 (1994/4480, Estonian)
T=0.3480 (1341/3854, ALSPAC)
T=0.3576 (1326/3708, TWINSUK)
T=0.2092 (613/2930, KOREAN)
T=0.2337 (487/2084, HGDP_Stanford)
T=0.2048 (385/1880, HapMap)
T=0.2178 (399/1832, Korea1K)
T=0.3363 (382/1136, Daghestan)
T=0.367 (366/998, GoNL)
T=0.230 (182/792, PRJEB37584)
T=0.234 (143/612, Vietnamese)
T=0.427 (256/600, NorthernSweden)
T=0.401 (214/534, MGP)
T=0.375 (114/304, FINRISK)
C=0.392 (91/232, SGDP_PRJ)
T=0.259 (56/216, Qatari)
T=0.36 (30/84, Ancient Sardinia)
T=0.25 (10/40, GENOME_DK)
C=0.35 (9/26, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: RNASEL : Missense Variant
Publications: 25 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	373904	C=0.651804	T=0.348196	0.428779	0.125171	0.44605	30
European	Sub	316842	C=0.633354	T=0.366646	0.401424	0.134717	0.463859	0
African	Sub	16554	C=0.87061	T=0.12939	0.759454	0.018243	0.222303	1
African Others	Sub	594	C=0.896	T=0.104	0.804714	0.013468	0.181818	0
African American	Sub	15960	C=0.86967	T=0.13033	0.757769	0.018421	0.22381	1
Asian	Sub	6912	C=0.7659	T=0.2341	0.592882	0.061053	0.346065	3
East Asian	Sub	4946	C=0.7752	T=0.2248	0.604125	0.053781	0.342095	1
Other Asian	Sub	1966	C=0.7426	T=0.2574	0.564598	0.079349	0.356053	3
Latin American 1	Sub	1426	C=0.7384	T=0.2616	0.552595	0.075736	0.371669	1
Latin American 2	Sub	3176	C=0.8032	T=0.1968	0.651134	0.04471	0.304156	2
South Asian	Sub	5226	C=0.7095	T=0.2905	0.514734	0.095675	0.389591	5
Other	Sub	23768	C=0.67406	T=0.32594	0.459357	0.111242	0.429401	4

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	357404	C=0.649156	T=0.350844
Allele Frequency Aggregator	European	Sub	306632	C=0.633518	T=0.366482
Allele Frequency Aggregator	Other	Sub	22316	C=0.67230	T=0.32770
Allele Frequency Aggregator	African	Sub	11716	C=0.86591	T=0.13409
Allele Frequency Aggregator	Asian	Sub	6912	C=0.7659	T=0.2341
Allele Frequency Aggregator	South Asian	Sub	5226	C=0.7095	T=0.2905
Allele Frequency Aggregator	Latin American 2	Sub	3176	C=0.8032	T=0.1968
Allele Frequency Aggregator	Latin American 1	Sub	1426	C=0.7384	T=0.2616
TopMed	Global	Study-wide	264690	C=0.737992	T=0.262008
gnomAD - Exomes	Global	Study-wide	251298	C=0.694562	T=0.305438
gnomAD - Exomes	European	Sub	135256	C=0.628815	T=0.371185
gnomAD - Exomes	Asian	Sub	49006	C=0.72697	T=0.27303
gnomAD - Exomes	American	Sub	34580	C=0.82831	T=0.17169
gnomAD - Exomes	African	Sub	16256	C=0.87734	T=0.12266
gnomAD - Exomes	Ashkenazi Jewish	Sub	10066	C=0.68051	T=0.31949
gnomAD - Exomes	Other	Sub	6134	C=0.6700	T=0.3300
gnomAD - Genomes	Global	Study-wide	139978	C=0.719377	T=0.280623
gnomAD - Genomes	European	Sub	75786	C=0.62752	T=0.37248
gnomAD - Genomes	African	Sub	41966	C=0.87504	T=0.12496
gnomAD - Genomes	American	Sub	13622	C=0.74578	T=0.25422
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.6995	T=0.3005
gnomAD - Genomes	East Asian	Sub	3128	C=0.7631	T=0.2369
gnomAD - Genomes	Other	Sub	2152	C=0.7189	T=0.2811
ExAC	Global	Study-wide	121364	C=0.691078	T=0.308922
ExAC	Europe	Sub	73326	C=0.62848	T=0.37152
ExAC	Asian	Sub	25158	C=0.72867	T=0.27133
ExAC	American	Sub	11570	C=0.84140	T=0.15860
ExAC	African	Sub	10404	C=0.87755	T=0.12245
ExAC	Other	Sub	906	C=0.652	T=0.348
The PAGE Study	Global	Study-wide	78672	C=0.81119	T=0.18881
The PAGE Study	AfricanAmerican	Sub	32500	C=0.86622	T=0.13378
The PAGE Study	Mexican	Sub	10810	C=0.81711	T=0.18289
The PAGE Study	Asian	Sub	8314	C=0.7961	T=0.2039
The PAGE Study	PuertoRican	Sub	7916	C=0.7305	T=0.2695
The PAGE Study	NativeHawaiian	Sub	4532	C=0.7504	T=0.2496
The PAGE Study	Cuban	Sub	4226	C=0.6879	T=0.3121
The PAGE Study	Dominican	Sub	3826	C=0.7684	T=0.2316
The PAGE Study	CentralAmerican	Sub	2450	C=0.8318	T=0.1682
The PAGE Study	SouthAmerican	Sub	1982	C=0.8073	T=0.1927
The PAGE Study	NativeAmerican	Sub	1260	C=0.7452	T=0.2548
The PAGE Study	SouthAsian	Sub	856	C=0.708	T=0.292
14KJPN	JAPANESE	Study-wide	28254	C=0.79982	T=0.20018
8.3KJPN	JAPANESE	Study-wide	16760	C=0.79785	T=0.20215
1000Genomes_30x	Global	Study-wide	6404	C=0.7691	T=0.2309
1000Genomes_30x	African	Sub	1786	C=0.9267	T=0.0733
1000Genomes_30x	Europe	Sub	1266	C=0.6256	T=0.3744
1000Genomes_30x	South Asian	Sub	1202	C=0.6864	T=0.3136
1000Genomes_30x	East Asian	Sub	1170	C=0.7581	T=0.2419
1000Genomes_30x	American	Sub	980	C=0.782	T=0.218
1000Genomes	Global	Study-wide	5008	C=0.7694	T=0.2306
1000Genomes	African	Sub	1322	C=0.9334	T=0.0666
1000Genomes	East Asian	Sub	1008	C=0.7579	T=0.2421
1000Genomes	Europe	Sub	1006	C=0.6292	T=0.3708
1000Genomes	South Asian	Sub	978	C=0.698	T=0.302
1000Genomes	American	Sub	694	C=0.777	T=0.223
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5549	T=0.4451
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6520	T=0.3480
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6424	T=0.3576
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7908	T=0.2092
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.7663	T=0.2337
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.768	T=0.232
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.756	T=0.244
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.714	T=0.286
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.613	T=0.388
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.917	T=0.083
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.991	T=0.009
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.57	T=0.43
HapMap	Global	Study-wide	1880	C=0.7952	T=0.2048
HapMap	American	Sub	770	C=0.722	T=0.278
HapMap	African	Sub	688	C=0.923	T=0.077
HapMap	Asian	Sub	246	C=0.785	T=0.215
HapMap	Europe	Sub	176	C=0.631	T=0.369
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7822	T=0.2178
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.6637	T=0.3363
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.631	T=0.369
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.688	T=0.312
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.762	T=0.238
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.685	T=0.315
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.68	T=0.32
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.69	T=0.31
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.633	T=0.367
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.770	T=0.230
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.770	T=0.230
A Vietnamese Genetic Variation Database	Global	Study-wide	612	C=0.766	T=0.234
Northern Sweden	ACPOP	Study-wide	600	C=0.573	T=0.427
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.599	T=0.401
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.625	T=0.375
SGDP_PRJ	Global	Study-wide	232	C=0.392	T=0.608
Qatari	Global	Study-wide	216	C=0.741	T=0.259
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	84	C=0.64	T=0.36
The Danish reference pan genome	Danish	Study-wide	40	C=0.75	T=0.25
Siberian	Global	Study-wide	26	C=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 1	NC_000001.11:g.182585422C>T
GRCh37.p13 chr 1	NC_000001.10:g.182554557C>T
RNASEL RefSeqGene	NG_009024.3:g.8834G>A
RNASEL RefSeqGene	NG_009024.2:g.6552G>A

Gene: RNASEL, ribonuclease L (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RNASEL transcript	NM_021133.4:c.1385G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
2-5A-dependent ribonuclease	NP_066956.1:p.Arg462Gln	R (Arg) > Q (Gln)	Missense Variant
RNASEL transcript variant X1	XM_047427096.1:c.1385G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
2-5A-dependent ribonuclease isoform X1	XP_047283052.1:p.Arg462Gln	R (Arg) > Q (Gln)	Missense Variant
RNASEL transcript variant X2	XM_047427106.1:c.1385G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
2-5A-dependent ribonuclease isoform X2	XP_047283062.1:p.Arg462Gln	R (Arg) > Q (Gln)	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: T (allele ID: 28045 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000013880.3	Prostate cancer, susceptibility to	Risk-Factor
RCV002279713.1	Prostate cancer, hereditary, 1	Uncertain-Significance

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=	T
GRCh38.p14 chr 1	NC_000001.11:g.182585422=	NC_000001.11:g.182585422C>T
GRCh37.p13 chr 1	NC_000001.10:g.182554557=	NC_000001.10:g.182554557C>T
RNASEL RefSeqGene	NG_009024.3:g.8834=	NG_009024.3:g.8834G>A
RNASEL RefSeqGene	NG_009024.2:g.6552=	NG_009024.2:g.6552G>A
RNASEL transcript	NM_021133.4:c.1385=	NM_021133.4:c.1385G>A
RNASEL transcript	NM_021133.3:c.1385=	NM_021133.3:c.1385G>A
RNASEL transcript variant X1	XM_047427096.1:c.1385=	XM_047427096.1:c.1385G>A
RNASEL transcript variant X2	XM_047427106.1:c.1385=	XM_047427106.1:c.1385G>A
2-5A-dependent ribonuclease	NP_066956.1:p.Arg462=	NP_066956.1:p.Arg462Gln
2-5A-dependent ribonuclease isoform X1	XP_047283052.1:p.Arg462=	XP_047283052.1:p.Arg462Gln
2-5A-dependent ribonuclease isoform X2	XP_047283062.1:p.Arg462=	XP_047283062.1:p.Arg462Gln

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#.

177 SubSNP, 29 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss656577	Aug 11, 2000 (83)
2	KWOK	ss2029480	Oct 18, 2000 (87)
3	KWOK	ss2029833	Oct 18, 2000 (87)
4	YUSUKE	ss4924580	Aug 28, 2002 (108)
5	BCM_SSAHASNP	ss9860090	Jul 11, 2003 (116)
6	SNP500CANCER	ss12675607	Nov 17, 2003 (118)
7	APPLERA_GI	ss48422436	Mar 13, 2006 (126)
8	CANCER-GENOME	ss48533225	Mar 13, 2006 (126)
9	ILLUMINA	ss65728496	Oct 16, 2006 (127)
10	ILLUMINA	ss66545191	Dec 02, 2006 (127)
11	ILLUMINA	ss67390440	Dec 02, 2006 (127)
12	ILLUMINA	ss67764383	Dec 02, 2006 (127)
13	CSHL-HAPMAP	ss68429113	Jan 12, 2007 (127)
14	PERLEGEN	ss68786496	May 18, 2007 (127)
15	ILLUMINA	ss70831895	May 26, 2008 (130)
16	ILLUMINA	ss71414647	May 18, 2007 (127)
17	AFFY	ss74811355	Aug 16, 2007 (128)
18	ILLUMINA	ss74943959	Dec 06, 2007 (129)
19	ILLUMINA	ss79199838	Dec 15, 2007 (130)
20	HGSV	ss81268314	Dec 15, 2007 (130)
21	KRIBB_YJKIM	ss83464757	Dec 15, 2007 (130)
22	BCMHGSC_JDW	ss87891869	Mar 23, 2008 (129)
23	ILLUMINA-UK	ss119121466	Feb 15, 2009 (130)
24	ILLUMINA	ss122415071	Dec 01, 2009 (131)
25	ENSEMBL	ss138115561	Dec 01, 2009 (131)
26	ILLUMINA	ss154324596	Dec 01, 2009 (131)
27	ILLUMINA	ss159501163	Dec 01, 2009 (131)
28	SEATTLESEQ	ss159699849	Dec 01, 2009 (131)
29	ILLUMINA	ss160721854	Dec 01, 2009 (131)
30	COMPLETE_GENOMICS	ss165523234	Jul 04, 2010 (132)
31	COMPLETE_GENOMICS	ss167345802	Jul 04, 2010 (132)
32	OMICIA	ss169671134	Aug 28, 2012 (137)
33	ILLUMINA	ss171955243	Jul 04, 2010 (132)
34	ILLUMINA	ss173852094	Jul 04, 2010 (132)
35	BUSHMAN	ss199329188	Jul 04, 2010 (132)
36	1000GENOMES	ss218755214	Jul 14, 2010 (132)
37	1000GENOMES	ss230808814	Jul 14, 2010 (132)
38	1000GENOMES	ss238439275	Jul 15, 2010 (132)
39	OMIM-CURATED-RECORDS	ss275518427	Dec 08, 2010 (133)
40	GMI	ss276125991	May 04, 2012 (137)
41	PJP	ss290676989	May 09, 2011 (134)
42	NHLBI-ESP	ss342014954	May 09, 2011 (134)
43	ILLUMINA	ss481080562	May 04, 2012 (137)
44	ILLUMINA	ss481102495	May 04, 2012 (137)
45	ILLUMINA	ss482095367	Sep 08, 2015 (146)
46	ILLUMINA	ss485335407	May 04, 2012 (137)
47	1000GENOMES	ss489780605	May 04, 2012 (137)
48	EXOME_CHIP	ss491306969	May 04, 2012 (137)
49	CLINSEQ_SNP	ss491610829	May 04, 2012 (137)
50	ILLUMINA	ss537286376	Sep 08, 2015 (146)
51	TISHKOFF	ss554924572	Apr 25, 2013 (138)
52	SSMP	ss648542322	Apr 25, 2013 (138)
53	ILLUMINA	ss778922817	Aug 21, 2014 (142)
54	ILLUMINA	ss780724899	Sep 08, 2015 (146)
55	ILLUMINA	ss783113474	Aug 21, 2014 (142)
56	ILLUMINA	ss783400915	Sep 08, 2015 (146)
57	ILLUMINA	ss784070412	Aug 21, 2014 (142)
58	ILLUMINA	ss825530356	Jul 19, 2016 (147)
59	ILLUMINA	ss832372165	Apr 01, 2015 (144)
60	ILLUMINA	ss833012521	Aug 21, 2014 (142)
61	ILLUMINA	ss833603350	Aug 21, 2014 (142)
62	ILLUMINA	ss834384268	Aug 21, 2014 (142)
63	JMKIDD_LAB	ss974438635	Aug 21, 2014 (142)
64	EVA-GONL	ss975885936	Aug 21, 2014 (142)
65	JMKIDD_LAB	ss1067429561	Aug 21, 2014 (142)
66	JMKIDD_LAB	ss1068417762	Aug 21, 2014 (142)
67	1000GENOMES	ss1293700974	Aug 21, 2014 (142)
68	HAMMER_LAB	ss1397266027	Sep 08, 2015 (146)
69	DDI	ss1426038219	Apr 01, 2015 (144)
70	EVA_GENOME_DK	ss1574522005	Apr 01, 2015 (144)
71	EVA_FINRISK	ss1584013414	Apr 01, 2015 (144)
72	EVA_DECODE	ss1585277146	Apr 01, 2015 (144)
73	EVA_UK10K_ALSPAC	ss1601629659	Apr 01, 2015 (144)
74	EVA_UK10K_TWINSUK	ss1644623692	Apr 01, 2015 (144)
75	EVA_EXAC	ss1685944455	Apr 01, 2015 (144)
76	EVA_MGP	ss1710935175	Apr 01, 2015 (144)
77	EVA_SVP	ss1712386949	Apr 01, 2015 (144)
78	ILLUMINA	ss1751885358	Sep 08, 2015 (146)
79	ILLUMINA	ss1751885359	Sep 08, 2015 (146)
80	HAMMER_LAB	ss1795372720	Sep 08, 2015 (146)
81	ILLUMINA	ss1917739253	Feb 12, 2016 (147)
82	WEILL_CORNELL_DGM	ss1919122142	Feb 12, 2016 (147)
83	ILLUMINA	ss1946016760	Feb 12, 2016 (147)
84	ILLUMINA	ss1958337682	Feb 12, 2016 (147)
85	JJLAB	ss2020077675	Sep 14, 2016 (149)
86	USC_VALOUEV	ss2148105375	Dec 20, 2016 (150)
87	HUMAN_LONGEVITY	ss2168125741	Dec 20, 2016 (150)
88	ILLUMINA	ss2632601368	Nov 08, 2017 (151)
89	ILLUMINA	ss2635005029	Nov 08, 2017 (151)
90	GRF	ss2698087094	Nov 08, 2017 (151)
91	GNOMAD	ss2732106152	Nov 08, 2017 (151)
92	GNOMAD	ss2746512598	Nov 08, 2017 (151)
93	GNOMAD	ss2763509835	Nov 08, 2017 (151)
94	AFFY	ss2984887427	Nov 08, 2017 (151)
95	SWEGEN	ss2988063430	Nov 08, 2017 (151)
96	ILLUMINA	ss3021157854	Nov 08, 2017 (151)
97	EVA_SAMSUNG_MC	ss3023057405	Nov 08, 2017 (151)
98	BIOINF_KMB_FNS_UNIBA	ss3023798553	Nov 08, 2017 (151)
99	CSHL	ss3343801666	Nov 08, 2017 (151)
100	ILLUMINA	ss3626256106	Oct 11, 2018 (152)
101	ILLUMINA	ss3626256107	Oct 11, 2018 (152)
102	ILLUMINA	ss3630632730	Oct 11, 2018 (152)
103	ILLUMINA	ss3632917584	Oct 11, 2018 (152)
104	ILLUMINA	ss3633613260	Oct 11, 2018 (152)
105	ILLUMINA	ss3634361665	Oct 11, 2018 (152)
106	ILLUMINA	ss3634361666	Oct 11, 2018 (152)
107	ILLUMINA	ss3635306546	Oct 11, 2018 (152)
108	ILLUMINA	ss3636040563	Oct 11, 2018 (152)
109	ILLUMINA	ss3637057060	Oct 11, 2018 (152)
110	ILLUMINA	ss3637800295	Oct 11, 2018 (152)
111	ILLUMINA	ss3638916162	Oct 11, 2018 (152)
112	ILLUMINA	ss3639456559	Oct 11, 2018 (152)
113	ILLUMINA	ss3640069019	Oct 11, 2018 (152)
114	ILLUMINA	ss3640069020	Oct 11, 2018 (152)
115	ILLUMINA	ss3642808168	Oct 11, 2018 (152)
116	ILLUMINA	ss3644512728	Oct 11, 2018 (152)
117	OMUKHERJEE_ADBS	ss3646249809	Oct 11, 2018 (152)
118	ILLUMINA	ss3651496717	Oct 11, 2018 (152)
119	ILLUMINA	ss3653656714	Oct 11, 2018 (152)
120	EGCUT_WGS	ss3656013056	Jul 12, 2019 (153)
121	EVA_DECODE	ss3688159943	Jul 12, 2019 (153)
122	ILLUMINA	ss3725085464	Jul 12, 2019 (153)
123	ACPOP	ss3727653925	Jul 12, 2019 (153)
124	ILLUMINA	ss3744356746	Jul 12, 2019 (153)
125	ILLUMINA	ss3744662532	Jul 12, 2019 (153)
126	ILLUMINA	ss3744662533	Jul 12, 2019 (153)
127	EVA	ss3747044811	Jul 12, 2019 (153)
128	PAGE_CC	ss3770856601	Jul 12, 2019 (153)
129	ILLUMINA	ss3772163556	Jul 12, 2019 (153)
130	ILLUMINA	ss3772163557	Jul 12, 2019 (153)
131	KHV_HUMAN_GENOMES	ss3800045937	Jul 12, 2019 (153)
132	EVA	ss3823692485	Apr 25, 2020 (154)
133	EVA	ss3825518745	Apr 25, 2020 (154)
134	EVA	ss3825535747	Apr 25, 2020 (154)
135	EVA	ss3825582445	Apr 25, 2020 (154)
136	EVA	ss3826524848	Apr 25, 2020 (154)
137	EVA	ss3836659024	Apr 25, 2020 (154)
138	EVA	ss3842069329	Apr 25, 2020 (154)
139	HGDP	ss3847356093	Apr 25, 2020 (154)
140	SGDP_PRJ	ss3850403773	Apr 25, 2020 (154)
141	KRGDB	ss3895663716	Apr 25, 2020 (154)
142	KOGIC	ss3946033084	Apr 25, 2020 (154)
143	FSA-LAB	ss3983955995	Apr 25, 2021 (155)
144	FSA-LAB	ss3983955996	Apr 25, 2021 (155)
145	EVA	ss3984468167	Apr 25, 2021 (155)
146	EVA	ss3984838165	Apr 25, 2021 (155)
147	EVA	ss3986014335	Apr 25, 2021 (155)
148	EVA	ss3986150041	Apr 25, 2021 (155)
149	EVA	ss4016949614	Apr 25, 2021 (155)
150	TOPMED	ss4475132347	Apr 25, 2021 (155)
151	TOMMO_GENOMICS	ss5147355055	Apr 25, 2021 (155)
152	EVA	ss5236876407	Apr 25, 2021 (155)
153	EVA	ss5237165397	Apr 25, 2021 (155)
154	EVA	ss5237633622	Oct 12, 2022 (156)
155	1000G_HIGH_COVERAGE	ss5244963489	Oct 12, 2022 (156)
156	TRAN_CS_UWATERLOO	ss5314398302	Oct 12, 2022 (156)
157	EVA	ss5314665803	Oct 12, 2022 (156)
158	HUGCELL_USP	ss5445481945	Oct 12, 2022 (156)
159	EVA	ss5506100530	Oct 12, 2022 (156)
160	1000G_HIGH_COVERAGE	ss5518630177	Oct 12, 2022 (156)
161	EVA	ss5623917540	Oct 12, 2022 (156)
162	EVA	ss5624000684	Oct 12, 2022 (156)
163	SANFORD_IMAGENETICS	ss5626974061	Oct 12, 2022 (156)
164	TOMMO_GENOMICS	ss5674805993	Oct 12, 2022 (156)
165	EVA	ss5799505076	Oct 12, 2022 (156)
166	EVA	ss5800047368	Oct 12, 2022 (156)
167	EVA	ss5800088013	Oct 12, 2022 (156)
168	YY_MCH	ss5801427082	Oct 12, 2022 (156)
169	EVA	ss5832931325	Oct 12, 2022 (156)
170	EVA	ss5847565284	Oct 12, 2022 (156)
171	EVA	ss5848279875	Oct 12, 2022 (156)
172	EVA	ss5849185324	Oct 12, 2022 (156)
173	EVA	ss5911019490	Oct 12, 2022 (156)
174	EVA	ss5935537786	Oct 12, 2022 (156)
175	EVA	ss5936513215	Oct 12, 2022 (156)
176	EVA	ss5938789121	Oct 12, 2022 (156)
177	EVA	ss5980002488	Oct 12, 2022 (156)
178	1000Genomes	NC_000001.10 - 182554557	Oct 11, 2018 (152)
179	1000Genomes_30x	NC_000001.11 - 182585422	Oct 12, 2022 (156)
180	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 182554557	Oct 11, 2018 (152)
181	Genome-wide autozygosity in Daghestan	NC_000001.9 - 180821180	Apr 25, 2020 (154)
182	Genetic variation in the Estonian population	NC_000001.10 - 182554557	Oct 11, 2018 (152)
183	ExAC	NC_000001.10 - 182554557	Oct 11, 2018 (152)
184	FINRISK	NC_000001.10 - 182554557	Apr 25, 2020 (154)
185	The Danish reference pan genome	NC_000001.10 - 182554557	Apr 25, 2020 (154)
186	gnomAD - Genomes	NC_000001.11 - 182585422	Apr 25, 2021 (155)
187	gnomAD - Exomes	NC_000001.10 - 182554557	Jul 12, 2019 (153)
188	Genome of the Netherlands Release 5	NC_000001.10 - 182554557	Apr 25, 2020 (154)
189	HGDP-CEPH-db Supplement 1	NC_000001.9 - 180821180	Apr 25, 2020 (154)
190	HapMap	NC_000001.11 - 182585422	Apr 25, 2020 (154)
191	KOREAN population from KRGDB	NC_000001.10 - 182554557	Apr 25, 2020 (154)
192	Korean Genome Project	NC_000001.11 - 182585422	Apr 25, 2020 (154)
193	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 182554557	Apr 25, 2020 (154)
194	Northern Sweden	NC_000001.10 - 182554557	Jul 12, 2019 (153)
195	The PAGE Study	NC_000001.11 - 182585422	Jul 12, 2019 (153)
196	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 182554557	Apr 25, 2021 (155)
197	CNV burdens in cranial meningiomas	NC_000001.10 - 182554557	Apr 25, 2021 (155)
198	Qatari	NC_000001.10 - 182554557	Apr 25, 2020 (154)
199	SGDP_PRJ	NC_000001.10 - 182554557	Apr 25, 2020 (154)
200	Siberian	NC_000001.10 - 182554557	Apr 25, 2020 (154)
201	8.3KJPN	NC_000001.10 - 182554557	Apr 25, 2021 (155)
202	14KJPN	NC_000001.11 - 182585422	Oct 12, 2022 (156)
203	TopMed	NC_000001.11 - 182585422	Apr 25, 2021 (155)
204	UK 10K study - Twins	NC_000001.10 - 182554557	Oct 11, 2018 (152)
205	A Vietnamese Genetic Variation Database	NC_000001.10 - 182554557	Jul 12, 2019 (153)
206	ALFA	NC_000001.11 - 182585422	Apr 25, 2021 (155)
207	ClinVar	RCV000013880.3	Oct 11, 2018 (152)
208	ClinVar	RCV002279713.1	Oct 12, 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)
rs3738580	Oct 08, 2002 (108)
rs52825450	Sep 21, 2007 (128)
rs60634396	May 26, 2008 (130)
rs386596027	Aug 06, 2014 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81268314, ss3638916162, ss3639456559	NC_000001.8:179286213:C:T	NC_000001.11:182585421:C:T	(self)
27216, 33985, ss87891869, ss119121466, ss165523234, ss167345802, ss199329188, ss276125991, ss290676989, ss481080562, ss491610829, ss825530356, ss1397266027, ss1585277146, ss1712386949, ss2635005029, ss3642808168, ss3847356093	NC_000001.9:180821179:C:T	NC_000001.11:182585421:C:T	(self)
4520230, 2477449, 1751304, 5172875, 9875, 1787955, 1136062, 1076119, 2841110, 51927, 938790, 64092, 17485, 1164072, 2420753, 621729, 5324362, 2477449, 530980, ss218755214, ss230808814, ss238439275, ss342014954, ss481102495, ss482095367, ss485335407, ss489780605, ss491306969, ss537286376, ss554924572, ss648542322, ss778922817, ss780724899, ss783113474, ss783400915, ss784070412, ss832372165, ss833012521, ss833603350, ss834384268, ss974438635, ss975885936, ss1067429561, ss1068417762, ss1293700974, ss1426038219, ss1574522005, ss1584013414, ss1601629659, ss1644623692, ss1685944455, ss1710935175, ss1751885358, ss1751885359, ss1795372720, ss1917739253, ss1919122142, ss1946016760, ss1958337682, ss2020077675, ss2148105375, ss2632601368, ss2698087094, ss2732106152, ss2746512598, ss2763509835, ss2984887427, ss2988063430, ss3021157854, ss3023057405, ss3343801666, ss3626256106, ss3626256107, ss3630632730, ss3632917584, ss3633613260, ss3634361665, ss3634361666, ss3635306546, ss3636040563, ss3637057060, ss3637800295, ss3640069019, ss3640069020, ss3644512728, ss3646249809, ss3651496717, ss3653656714, ss3656013056, ss3727653925, ss3744356746, ss3744662532, ss3744662533, ss3747044811, ss3772163556, ss3772163557, ss3823692485, ss3825518745, ss3825535747, ss3825582445, ss3826524848, ss3836659024, ss3850403773, ss3895663716, ss3983955995, ss3983955996, ss3984468167, ss3984838165, ss3986014335, ss3986150041, ss4016949614, ss5147355055, ss5314665803, ss5506100530, ss5623917540, ss5624000684, ss5626974061, ss5799505076, ss5800047368, ss5800088013, ss5832931325, ss5847565284, ss5848279875, ss5935537786, ss5936513215, ss5938789121, ss5980002488	NC_000001.10:182554556:C:T	NC_000001.11:182585421:C:T	(self)
RCV000013880.3, RCV002279713.1, 6156112, 32631428, 217712, 2411085, 78070, 8643097, 38738682, 330396221, ss169671134, ss275518427, ss2168125741, ss3023798553, ss3688159943, ss3725085464, ss3770856601, ss3800045937, ss3842069329, ss3946033084, ss4475132347, ss5236876407, ss5237165397, ss5237633622, ss5244963489, ss5314398302, ss5445481945, ss5518630177, ss5674805993, ss5801427082, ss5849185324, ss5911019490	NC_000001.11:182585421:C:T	NC_000001.11:182585421:C:T	(self)
ss9860090	NT_004487.15:11347593:C:T	NC_000001.11:182585421:C:T	(self)
ss656577, ss2029480, ss2029833, ss4924580, ss12675607, ss48422436, ss48533225, ss65728496, ss66545191, ss67390440, ss67764383, ss68429113, ss68786496, ss70831895, ss71414647, ss74811355, ss74943959, ss79199838, ss83464757, ss122415071, ss138115561, ss154324596, ss159501163, ss159699849, ss160721854, ss171955243, ss173852094	NT_004487.19:34043198:C:T	NC_000001.11:182585421:C:T	(self)

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

25 citations for rs486907

PMID	Title	Author	Year	Journal
12415269	RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases.	Casey G et al.	2002	Nature genetics
18566991	Joint effects of inflammation and androgen metabolism on prostate cancer severity.	Rebbeck TR et al.	2008	International journal of cancer
18575592	Germline mutation in RNASEL predicts increased risk of head and neck, uterine cervix and breast cancer.	Madsen BE et al.	2008	PloS one
18676870	Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.	Hsing AW et al.	2008	Cancer research
19379518	Development of a fingerprinting panel using medically relevant polymorphisms.	Cross DS et al.	2009	BMC medical genomics
19567509	Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.	Breyer JP et al.	2009	Cancer epidemiology, biomarkers & prevention
20564318	Contribution of HPC1 (RNASEL) and HPCX variants to prostate cancer in a founder population.	Agalliu I et al.	2010	The Prostate
20565774	Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.	Cross DS et al.	2010	BMC genetics
20576793	Genetic variation in RNASEL associated with prostate cancer risk and progression.	Meyer MS et al.	2010	Carcinogenesis
21221811	RNASEL -1385G/A polymorphism and cancer risk: a meta-analysis based on 21 case-control studies.	Zhang LF et al.	2011	Molecular biology reports
21360564	Genetic variation in RNASEL and risk for prostate cancer in a population-based case-control study.	Fesinmeyer MD et al.	2011	The Prostate
21708280	Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.	Srivastava K et al.	2011	Mutation research
22024213	A novel gene-environment interaction involved in endometriosis.	McCarty CA et al.	2012	International journal of gynaecology and obstetrics
23057767	Inflammatory gene variants and the risk of biliary tract cancers and stones: a population-based study in China.	Castro FA et al.	2012	BMC cancer
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
24491308	Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men.	Cartwright R et al.	2014	European urology
26236721	Functional and Structural Consequences of Damaging Single Nucleotide Polymorphisms in Human Prostate Cancer Predisposition Gene RNASEL.	Datta A et al.	2015	BioMed research international
26251261	Prognostic role of genetic biomarkers in clinical progression of prostate cancer.	Alvarez-Cubero MJ et al.	2015	Experimental & molecular medicine
26771888	Key genes involved in the immune response are generally not associated with intraprostatic inflammation in men without a prostate cancer diagnosis: Results from the prostate cancer prevention trial.	Winchester DA et al.	2016	The Prostate
27318894	Association between RNASEL, MSR1, and ELAC2 single nucleotide polymorphisms and gene expression in prostate cancer risk.	Alvarez-Cubero MJ et al.	2016	Urologic oncology
28654546	Sex-specific effect of RNASEL rs486907 and miR-146a rs2910164 polymorphisms' interaction as a susceptibility factor for melanoma skin cancer.	Sangalli A et al.	2017	Melanoma research
29088852	Association of a common genetic variant in RNASEL and prostate cancer susceptibility.	Zuo L et al.	2017	Oncotarget
29317837	The RNASEL -1385G/A polymorphism is associated with risk of prostate cancer in Africans.	Liu X et al.	2018	OncoTargets and therapy
31686670	Evidence from 40 Studies that 2 Common Single-Nucleotide Polymorphisms (SNPs) of RNASEL Gene Affect Prostate Cancer Susceptibility: A Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)-Compliant Meta-Analysis.	Xia J et al.	2019	Medical science monitor
32233832	Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations.	Balabanski L et al.	2020	Technology in cancer research & treatment

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

Genome context:

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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).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs486907