Name: rs2660
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.

rs2660

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:112919637 (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>A / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.340134 (105307/309604, ALFA)
G=0.237247 (62797/264690, TOPMED)
G=0.285208 (67425/236406, GnomAD_exome) (+ 25 more)
G=0.245081 (34328/140068, GnomAD)
G=0.266581 (27806/104306, ExAC)
G=0.15375 (12100/78700, PAGE_STUDY)
G=0.20607 (5823/28258, 14KJPN)
G=0.20949 (3511/16760, 8.3KJPN)
G=0.26019 (3384/13006, GO-ESP)
G=0.2077 (1330/6404, 1000G_30x)
G=0.2123 (1063/5008, 1000G)
G=0.2757 (1235/4480, Estonian)
G=0.3396 (1309/3854, ALSPAC)
G=0.3552 (1317/3708, TWINSUK)
G=0.2341 (686/2930, KOREAN)
G=0.2434 (446/1832, Korea1K)
G=0.2001 (285/1424, HapMap)
G=0.3154 (357/1132, Daghestan)
G=0.318 (317/998, GoNL)
G=0.311 (246/792, PRJEB37584)
G=0.297 (181/610, Vietnamese)
G=0.272 (163/600, NorthernSweden)
G=0.337 (180/534, MGP)
G=0.161 (85/528, SGDP_PRJ)
G=0.338 (73/216, Qatari)
G=0.23 (14/60, Ancient Sardinia)
G=0.21 (12/56, Siberian)
G=0.33 (13/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: OAS1 : Stop Gained
Publications: 16 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	326006	G=0.335742	A=0.664258
European	Sub	270880	G=0.356686	A=0.643314
African	Sub	13720	G=0.08185	A=0.91815
African Others	Sub	500	G=0.022	A=0.978
African American	Sub	13220	G=0.08411	A=0.91589
Asian	Sub	6898	G=0.2335	A=0.7665
East Asian	Sub	4914	G=0.2487	A=0.7513
Other Asian	Sub	1984	G=0.1961	A=0.8039
Latin American 1	Sub	1542	G=0.2555	A=0.7445
Latin American 2	Sub	8810	G=0.1946	A=0.8054
South Asian	Sub	380	G=0.311	A=0.689
Other	Sub	23776	G=0.33122	A=0.66878

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	309604	G=0.340134	A=0.659866
Allele Frequency Aggregator	European	Sub	260764	G=0.357507	A=0.642493
Allele Frequency Aggregator	Other	Sub	22328	G=0.33375	A=0.66625
Allele Frequency Aggregator	African	Sub	8882	G=0.0893	A=0.9107
Allele Frequency Aggregator	Latin American 2	Sub	8810	G=0.1946	A=0.8054
Allele Frequency Aggregator	Asian	Sub	6898	G=0.2335	A=0.7665
Allele Frequency Aggregator	Latin American 1	Sub	1542	G=0.2555	A=0.7445
Allele Frequency Aggregator	South Asian	Sub	380	G=0.311	A=0.689
TopMed	Global	Study-wide	264690	G=0.237247	A=0.762753
gnomAD - Exomes	Global	Study-wide	236406	G=0.285208	A=0.714792
gnomAD - Exomes	European	Sub	125558	G=0.328279	A=0.671721
gnomAD - Exomes	Asian	Sub	47004	G=0.27244	A=0.72756
gnomAD - Exomes	American	Sub	33154	G=0.17340	A=0.82660
gnomAD - Exomes	African	Sub	15248	G=0.06368	A=0.93632
gnomAD - Exomes	Ashkenazi Jewish	Sub	9670	G=0.4945	A=0.5055
gnomAD - Exomes	Other	Sub	5772	G=0.3290	A=0.6710
gnomAD - Genomes	Global	Study-wide	140068	G=0.245081	A=0.754919
gnomAD - Genomes	European	Sub	75844	G=0.33150	A=0.66850
gnomAD - Genomes	African	Sub	41982	G=0.07160	A=0.92840
gnomAD - Genomes	American	Sub	13648	G=0.23439	A=0.76561
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.4976	A=0.5024
gnomAD - Genomes	East Asian	Sub	3120	G=0.2263	A=0.7737
gnomAD - Genomes	Other	Sub	2152	G=0.2890	A=0.7110
ExAC	Global	Study-wide	104306	G=0.266581	A=0.733419
ExAC	Europe	Sub	61934	G=0.31421	A=0.68579
ExAC	Asian	Sub	22312	G=0.26560	A=0.73440
ExAC	American	Sub	9784	G=0.1591	A=0.8409
ExAC	African	Sub	9480	G=0.0654	A=0.9346
ExAC	Other	Sub	796	G=0.305	A=0.695
The PAGE Study	Global	Study-wide	78700	G=0.15375	A=0.84625
The PAGE Study	AfricanAmerican	Sub	32514	G=0.07950	A=0.92050
The PAGE Study	Mexican	Sub	10810	G=0.18575	A=0.81425
The PAGE Study	Asian	Sub	8318	G=0.2133	A=0.7867
The PAGE Study	PuertoRican	Sub	7918	G=0.2206	A=0.7794
The PAGE Study	NativeHawaiian	Sub	4534	G=0.1925	A=0.8075
The PAGE Study	Cuban	Sub	4230	G=0.2676	A=0.7324
The PAGE Study	Dominican	Sub	3828	G=0.1787	A=0.8213
The PAGE Study	CentralAmerican	Sub	2450	G=0.1412	A=0.8588
The PAGE Study	SouthAmerican	Sub	1982	G=0.1821	A=0.8179
The PAGE Study	NativeAmerican	Sub	1260	G=0.2659	A=0.7341
The PAGE Study	SouthAsian	Sub	856	G=0.298	A=0.702
14KJPN	JAPANESE	Study-wide	28258	G=0.20607	A=0.79393
8.3KJPN	JAPANESE	Study-wide	16760	G=0.20949	A=0.79051
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.26019	A=0.73981
GO Exome Sequencing Project	European American	Sub	8600	G=0.3541	A=0.6459
GO Exome Sequencing Project	African American	Sub	4406	G=0.0769	A=0.9231
1000Genomes_30x	Global	Study-wide	6404	G=0.2077	A=0.7923
1000Genomes_30x	African	Sub	1786	G=0.0230	A=0.9770
1000Genomes_30x	Europe	Sub	1266	G=0.3468	A=0.6532
1000Genomes_30x	South Asian	Sub	1202	G=0.2862	A=0.7138
1000Genomes_30x	East Asian	Sub	1170	G=0.2556	A=0.7444
1000Genomes_30x	American	Sub	980	G=0.211	A=0.789
1000Genomes	Global	Study-wide	5008	G=0.2123	A=0.7877
1000Genomes	African	Sub	1322	G=0.0272	A=0.9728
1000Genomes	East Asian	Sub	1008	G=0.2550	A=0.7450
1000Genomes	Europe	Sub	1006	G=0.3449	A=0.6551
1000Genomes	South Asian	Sub	978	G=0.287	A=0.713
1000Genomes	American	Sub	694	G=0.205	A=0.795
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.2757	A=0.7243
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.3396	A=0.6604
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.3552	A=0.6448
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.2341	A=0.7659, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	G=0.2434	A=0.7566
HapMap	Global	Study-wide	1424	G=0.2001	A=0.7999
HapMap	American	Sub	590	G=0.247	A=0.753
HapMap	African	Sub	404	G=0.025	A=0.975
HapMap	Asian	Sub	254	G=0.201	A=0.799
HapMap	Europe	Sub	176	G=0.443	A=0.557
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	G=0.3154	A=0.6846
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	G=0.291	A=0.709
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	G=0.373	A=0.627
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.377	A=0.623
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.333	A=0.667
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.26	A=0.74
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.42	A=0.58
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.318	A=0.682
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.311	A=0.689
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.311	A=0.689
A Vietnamese Genetic Variation Database	Global	Study-wide	610	G=0.297	A=0.703
Northern Sweden	ACPOP	Study-wide	600	G=0.272	A=0.728
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.337	A=0.663
SGDP_PRJ	Global	Study-wide	528	G=0.161	A=0.839
Qatari	Global	Study-wide	216	G=0.338	A=0.662
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	60	G=0.23	A=0.77
Siberian	Global	Study-wide	56	G=0.21	A=0.79
The Danish reference pan genome	Danish	Study-wide	40	G=0.33	A=0.68

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 12	NC_000012.12:g.112919637G>A
GRCh38.p14 chr 12	NC_000012.12:g.112919637G>T
GRCh37.p13 chr 12	NC_000012.11:g.113357442G>A
GRCh37.p13 chr 12	NC_000012.11:g.113357442G>T
OAS1 RefSeqGene	NG_011530.2:g.17704G>A
OAS1 RefSeqGene	NG_011530.2:g.17704G>T

Gene: OAS1, 2'-5'-oligoadenylate synthetase 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
OAS1 transcript variant 4	NM_001320151.2:c.1038+193… NM_001320151.2:c.1038+1937G>A	N/A	Intron Variant
OAS1 transcript variant 1	NM_016816.4:c.*84=	N/A	3 Prime UTR Variant
OAS1 transcript variant 2	NM_002534.4:c.	N/A	Genic Downstream Transcript Variant
OAS1 transcript variant 3	NM_001032409.3:c.1189G>A	G [GGA] > R [AGA]	Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 3	NP_001027581.1:p.Gly397Arg	G (Gly) > R (Arg)	Missense Variant
OAS1 transcript variant 3	NM_001032409.3:c.1189G>T	G [GGA] > * [TGA]	Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 3	NP_001027581.1:p.Gly397Ter	G (Gly) > * (Ter)	Stop Gained
OAS1 transcript variant X5	XM_047428903.1:c.1014+193… XM_047428903.1:c.1014+1937G>A	N/A	Intron Variant
OAS1 transcript variant X2	XM_017019361.3:c.*84=	N/A	3 Prime UTR Variant
OAS1 transcript variant X3	XM_006719434.3:c.*924=	N/A	3 Prime UTR Variant
OAS1 transcript variant X4	XM_047428902.1:c.*924=	N/A	3 Prime UTR Variant
OAS1 transcript variant X7	XM_017019362.2:c.*84=	N/A	3 Prime UTR Variant
OAS1 transcript variant X6	XM_047428904.1:c.	N/A	Genic Downstream Transcript Variant
OAS1 transcript variant X8	XM_047428905.1:c.	N/A	Genic Downstream Transcript Variant
OAS1 transcript variant X1	XM_011538413.3:c.1165G>A	G [GGA] > R [AGA]	Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform X1	XP_011536715.1:p.Gly389Arg	G (Gly) > R (Arg)	Missense Variant
OAS1 transcript variant X1	XM_011538413.3:c.1165G>T	G [GGA] > * [TGA]	Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform X1	XP_011536715.1:p.Gly389Ter	G (Gly) > * (Ter)	Stop Gained

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: 1236739 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001642144.2	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=	A	T
GRCh38.p14 chr 12	NC_000012.12:g.112919637=	NC_000012.12:g.112919637G>A	NC_000012.12:g.112919637G>T
GRCh37.p13 chr 12	NC_000012.11:g.113357442=	NC_000012.11:g.113357442G>A	NC_000012.11:g.113357442G>T
OAS1 RefSeqGene	NG_011530.2:g.17704=	NG_011530.2:g.17704G>A	NG_011530.2:g.17704G>T
OAS1 transcript variant 1	NM_016816.4:c.*84=	NM_016816.4:c.*84G>A	NM_016816.4:c.*84G>T
OAS1 transcript variant 1	NM_016816.3:c.*84=	NM_016816.3:c.*84G>A	NM_016816.3:c.*84G>T
OAS1 transcript variant 1	NM_016816.2:c.*84=	NM_016816.2:c.*84G>A	NM_016816.2:c.*84G>T
OAS1 transcript variant 3	NM_001032409.3:c.1189=	NM_001032409.3:c.1189G>A	NM_001032409.3:c.1189G>T
OAS1 transcript variant 3	NM_001032409.2:c.1189=	NM_001032409.2:c.1189G>A	NM_001032409.2:c.1189G>T
OAS1 transcript variant 3	NM_001032409.1:c.1189=	NM_001032409.1:c.1189G>A	NM_001032409.1:c.1189G>T
OAS1 transcript variant 19	NR_175989.1:n.3076=	NR_175989.1:n.3076G>A	NR_175989.1:n.3076G>T
OAS1 transcript variant 9	NM_001406024.1:c.*1880=	NM_001406024.1:c.*1880G>A	NM_001406024.1:c.*1880G>T
OAS1 transcript variant 15	NR_175985.1:n.3006=	NR_175985.1:n.3006G>A	NR_175985.1:n.3006G>T
OAS1 transcript variant 14	NM_001406030.1:c.*1880=	NM_001406030.1:c.*1880G>A	NM_001406030.1:c.*1880G>T
OAS1 transcript variant 23	NR_175993.1:n.2180=	NR_175993.1:n.2180G>A	NR_175993.1:n.2180G>T
OAS1 transcript variant 7	NM_001406022.1:c.*924=	NM_001406022.1:c.*924G>A	NM_001406022.1:c.*924G>T
OAS1 transcript variant 8	NM_001406023.1:c.*924=	NM_001406023.1:c.*924G>A	NM_001406023.1:c.*924G>T
OAS1 transcript variant 18	NR_175988.1:n.2110=	NR_175988.1:n.2110G>A	NR_175988.1:n.2110G>T
OAS1 transcript variant 13	NM_001406029.1:c.*924=	NM_001406029.1:c.*924G>A	NM_001406029.1:c.*924G>T
OAS1 transcript variant 22	NR_175992.1:n.1388=	NR_175992.1:n.1388G>A	NR_175992.1:n.1388G>T
OAS1 transcript variant 6	NM_001406021.1:c.*84=	NM_001406021.1:c.*84G>A	NM_001406021.1:c.*84G>T
OAS1 transcript variant 16	NR_175986.1:n.1318=	NR_175986.1:n.1318G>A	NR_175986.1:n.1318G>T
OAS1 transcript variant 20	NR_175990.1:n.1290=	NR_175990.1:n.1290G>A	NR_175990.1:n.1290G>T
OAS1 transcript variant 5	NM_001406020.1:c.1165=	NM_001406020.1:c.1165G>A	NM_001406020.1:c.1165G>T
OAS1 transcript variant 17	NR_175987.1:n.1220=	NR_175987.1:n.1220G>A	NR_175987.1:n.1220G>T
OAS1 transcript variant 12	NM_001406027.1:c.*84=	NM_001406027.1:c.*84G>A	NM_001406027.1:c.*84G>T
OAS1 transcript variant 11	NM_001406026.1:c.715=	NM_001406026.1:c.715G>A	NM_001406026.1:c.715G>T
OAS1 transcript variant X3	XM_006719434.3:c.*924=	XM_006719434.3:c.*924G>A	XM_006719434.3:c.*924G>T
OAS1 transcript variant X2	XM_017019361.3:c.*84=	XM_017019361.3:c.*84G>A	XM_017019361.3:c.*84G>T
OAS1 transcript variant X1	XM_011538413.3:c.1165=	XM_011538413.3:c.1165G>A	XM_011538413.3:c.1165G>T
OAS1 transcript variant X7	XM_017019362.2:c.*84=	XM_017019362.2:c.*84G>A	XM_017019362.2:c.*84G>T
OAS1 transcript variant X4	XM_047428902.1:c.*924=	XM_047428902.1:c.*924G>A	XM_047428902.1:c.*924G>T
2'-5'-oligoadenylate synthase 1 isoform 3	NP_001027581.1:p.Gly397=	NP_001027581.1:p.Gly397Arg	NP_001027581.1:p.Gly397Ter
2'-5'-oligoadenylate synthase 1 isoform X1	XP_011536715.1:p.Gly389=	XP_011536715.1:p.Gly389Arg	XP_011536715.1:p.Gly389Ter
OAS1 transcript variant 4	NM_001320151.2:c.1038+1937=	NM_001320151.2:c.1038+1937G>A	NM_001320151.2:c.1038+1937G>T
OAS1 transcript variant X5	XM_047428903.1:c.1014+1937=	XM_047428903.1:c.1014+1937G>A	XM_047428903.1:c.1014+1937G>T

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#.

169 SubSNP, 28 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF	ss2690	Sep 19, 2000 (36)
2	LEE	ss1526290	Oct 04, 2000 (86)
3	LEE	ss4394788	May 29, 2002 (106)
4	LEE	ss4416688	May 29, 2002 (106)
5	SC_SNP	ss15825250	Feb 27, 2004 (120)
6	SSAHASNP	ss20883401	Apr 05, 2004 (121)
7	PERLEGEN	ss24415263	Sep 20, 2004 (123)
8	ABI	ss38908277	Mar 13, 2006 (126)
9	SNP500CANCER	ss48296084	Mar 13, 2006 (126)
10	ILLUMINA	ss65738341	Oct 16, 2006 (127)
11	AFFY	ss66399070	Dec 01, 2006 (127)
12	ILLUMINA	ss74909002	Dec 07, 2007 (129)
13	AFFY	ss76146599	Dec 08, 2007 (130)
14	CGM_KYOTO	ss76868627	Dec 07, 2007 (129)
15	HGSV	ss77248738	Dec 07, 2007 (129)
16	HGSV	ss78711209	Dec 07, 2007 (129)
17	KRIBB_YJKIM	ss81403980	Dec 15, 2007 (131)
18	HGSV	ss82285315	Dec 14, 2007 (130)
19	HGSV	ss82451274	Dec 14, 2007 (130)
20	BCMHGSC_JDW	ss89390680	Mar 24, 2008 (129)
21	HUMANGENOME_JCVI	ss97254434	Feb 02, 2009 (130)
22	BGI	ss105123001	Dec 01, 2009 (131)
23	1000GENOMES	ss112446216	Jan 25, 2009 (130)
24	1000GENOMES	ss114117524	Jan 25, 2009 (130)
25	ILLUMINA-UK	ss119719143	Dec 01, 2009 (131)
26	ENSEMBL	ss133365697	Dec 01, 2009 (131)
27	ENSEMBL	ss137576119	Dec 01, 2009 (131)
28	GMI	ss157919051	Dec 01, 2009 (131)
29	SEATTLESEQ	ss159727295	Dec 01, 2009 (131)
30	ILLUMINA	ss160567488	Dec 01, 2009 (131)
31	COMPLETE_GENOMICS	ss168721577	Jul 04, 2010 (132)
32	COMPLETE_GENOMICS	ss170894654	Jul 04, 2010 (132)
33	AFFY	ss172636298	Jul 04, 2010 (132)
34	ILLUMINA	ss173421494	Jul 04, 2010 (132)
35	BUSHMAN	ss198703482	Jul 04, 2010 (132)
36	BCM-HGSC-SUB	ss208033558	Jul 04, 2010 (132)
37	1000GENOMES	ss225966592	Jul 14, 2010 (132)
38	1000GENOMES	ss236091873	Jul 15, 2010 (132)
39	1000GENOMES	ss242618482	Jul 15, 2010 (132)
40	ILLUMINA	ss244291415	Jul 04, 2010 (132)
41	GMI	ss281551203	May 04, 2012 (137)
42	GMI	ss286628496	Apr 25, 2013 (138)
43	PJP	ss291342128	May 09, 2011 (134)
44	NHLBI-ESP	ss342367799	May 09, 2011 (134)
45	ILLUMINA	ss480628539	May 04, 2012 (137)
46	ILLUMINA	ss480643615	May 04, 2012 (137)
47	ILLUMINA	ss481484148	Sep 08, 2015 (146)
48	ILLUMINA	ss485109439	May 04, 2012 (137)
49	EXOME_CHIP	ss491473985	May 04, 2012 (137)
50	ILLUMINA	ss535378156	Sep 08, 2015 (146)
51	ILLUMINA	ss537113453	Sep 08, 2015 (146)
52	TISHKOFF	ss563411712	Apr 25, 2013 (138)
53	SSMP	ss658994708	Apr 25, 2013 (138)
54	ILLUMINA	ss778875325	Sep 08, 2015 (146)
55	ILLUMINA	ss780692920	Sep 08, 2015 (146)
56	ILLUMINA	ss783000995	Sep 08, 2015 (146)
57	ILLUMINA	ss783366753	Sep 08, 2015 (146)
58	ILLUMINA	ss783961482	Sep 08, 2015 (146)
59	ILLUMINA	ss832258128	Sep 08, 2015 (146)
60	ILLUMINA	ss834336276	Sep 08, 2015 (146)
61	EVA-GONL	ss989971187	Aug 21, 2014 (142)
62	JMKIDD_LAB	ss1078778422	Aug 21, 2014 (142)
63	1000GENOMES	ss1346687597	Aug 21, 2014 (142)
64	HAMMER_LAB	ss1397645805	Sep 08, 2015 (146)
65	DDI	ss1427057334	Apr 01, 2015 (144)
66	EVA_GENOME_DK	ss1576531139	Apr 01, 2015 (144)
67	EVA_UK10K_ALSPAC	ss1629472958	Apr 01, 2015 (144)
68	EVA_DECODE	ss1642077635	Apr 01, 2015 (144)
69	EVA_UK10K_TWINSUK	ss1672466991	Apr 01, 2015 (144)
70	EVA_EXAC	ss1691120140	Apr 01, 2015 (144)
71	EVA_MGP	ss1711343855	Apr 01, 2015 (144)
72	EVA_SVP	ss1713358889	Apr 01, 2015 (144)
73	ILLUMINA	ss1752047050	Sep 08, 2015 (146)
74	ILLUMINA	ss1752047051	Sep 08, 2015 (146)
75	HAMMER_LAB	ss1807424526	Sep 08, 2015 (146)
76	ILLUMINA	ss1917879084	Feb 12, 2016 (147)
77	WEILL_CORNELL_DGM	ss1933324021	Feb 12, 2016 (147)
78	ILLUMINA	ss1946350249	Feb 12, 2016 (147)
79	ILLUMINA	ss1959467189	Feb 12, 2016 (147)
80	GENOMED	ss1967683700	Jul 19, 2016 (147)
81	JJLAB	ss2027418828	Sep 14, 2016 (149)
82	USC_VALOUEV	ss2155768824	Dec 20, 2016 (150)
83	HUMAN_LONGEVITY	ss2193296660	Dec 20, 2016 (150)
84	SYSTEMSBIOZJU	ss2628190516	Nov 08, 2017 (151)
85	ILLUMINA	ss2633009949	Nov 08, 2017 (151)
86	GRF	ss2700126921	Nov 08, 2017 (151)
87	GNOMAD	ss2740152075	Nov 08, 2017 (151)
88	GNOMAD	ss2748966074	Nov 08, 2017 (151)
89	GNOMAD	ss2915329235	Nov 08, 2017 (151)
90	AFFY	ss2984991497	Nov 08, 2017 (151)
91	SWEGEN	ss3010368560	Nov 08, 2017 (151)
92	ILLUMINA	ss3021467533	Nov 08, 2017 (151)
93	BIOINF_KMB_FNS_UNIBA	ss3027519072	Nov 08, 2017 (151)
94	CSHL	ss3350253918	Nov 08, 2017 (151)
95	ILLUMINA	ss3626971557	Oct 12, 2018 (152)
96	ILLUMINA	ss3626971558	Oct 12, 2018 (152)
97	ILLUMINA	ss3626971559	Oct 12, 2018 (152)
98	ILLUMINA	ss3631016272	Oct 12, 2018 (152)
99	ILLUMINA	ss3633034622	Oct 12, 2018 (152)
100	ILLUMINA	ss3633736148	Oct 12, 2018 (152)
101	ILLUMINA	ss3634524348	Oct 12, 2018 (152)
102	ILLUMINA	ss3634524349	Oct 12, 2018 (152)
103	ILLUMINA	ss3635426609	Oct 12, 2018 (152)
104	ILLUMINA	ss3636210152	Oct 12, 2018 (152)
105	ILLUMINA	ss3637177617	Oct 12, 2018 (152)
106	ILLUMINA	ss3637987682	Oct 12, 2018 (152)
107	ILLUMINA	ss3640231681	Oct 12, 2018 (152)
108	ILLUMINA	ss3640231682	Oct 12, 2018 (152)
109	ILLUMINA	ss3642979265	Oct 12, 2018 (152)
110	ILLUMINA	ss3644603253	Oct 12, 2018 (152)
111	OMUKHERJEE_ADBS	ss3646447511	Oct 12, 2018 (152)
112	URBANLAB	ss3649923753	Oct 12, 2018 (152)
113	ILLUMINA	ss3651850560	Oct 12, 2018 (152)
114	ILLUMINA	ss3653761403	Oct 12, 2018 (152)
115	EGCUT_WGS	ss3677668779	Jul 13, 2019 (153)
116	EVA_DECODE	ss3694490261	Jul 13, 2019 (153)
117	ILLUMINA	ss3725358556	Jul 13, 2019 (153)
118	ACPOP	ss3739391696	Jul 13, 2019 (153)
119	ILLUMINA	ss3744401296	Jul 13, 2019 (153)
120	ILLUMINA	ss3744825162	Jul 13, 2019 (153)
121	ILLUMINA	ss3744825163	Jul 13, 2019 (153)
122	EVA	ss3750978872	Jul 13, 2019 (153)
123	PAGE_CC	ss3771718255	Jul 13, 2019 (153)
124	ILLUMINA	ss3772324362	Jul 13, 2019 (153)
125	ILLUMINA	ss3772324363	Jul 13, 2019 (153)
126	PACBIO	ss3787338807	Jul 13, 2019 (153)
127	PACBIO	ss3792420302	Jul 13, 2019 (153)
128	PACBIO	ss3797303385	Jul 13, 2019 (153)
129	KHV_HUMAN_GENOMES	ss3816310461	Jul 13, 2019 (153)
130	EVA	ss3824773313	Apr 27, 2020 (154)
131	EVA	ss3825829329	Apr 27, 2020 (154)
132	EVA	ss3833330989	Apr 27, 2020 (154)
133	EVA	ss3840237370	Apr 27, 2020 (154)
134	EVA	ss3845726029	Apr 27, 2020 (154)
135	SGDP_PRJ	ss3879136893	Apr 27, 2020 (154)
136	KRGDB	ss3927885565	Apr 27, 2020 (154)
137	KOGIC	ss3972754972	Apr 27, 2020 (154)
138	FSA-LAB	ss3984037882	Apr 26, 2021 (155)
139	EVA	ss3984673395	Apr 26, 2021 (155)
140	EVA	ss3985615509	Apr 26, 2021 (155)
141	EVA	ss3986061033	Apr 26, 2021 (155)
142	EVA	ss3986586954	Apr 26, 2021 (155)
143	EVA	ss4017611352	Apr 26, 2021 (155)
144	TOPMED	ss4933232327	Apr 26, 2021 (155)
145	TOMMO_GENOMICS	ss5208224456	Apr 26, 2021 (155)
146	EVA	ss5236909389	Apr 26, 2021 (155)
147	EVA	ss5237222033	Apr 26, 2021 (155)
148	EVA	ss5237660895	Oct 16, 2022 (156)
149	1000G_HIGH_COVERAGE	ss5292276661	Oct 16, 2022 (156)
150	EVA	ss5315649949	Oct 16, 2022 (156)
151	EVA	ss5408308326	Oct 16, 2022 (156)
152	HUGCELL_USP	ss5486875256	Oct 16, 2022 (156)
153	1000G_HIGH_COVERAGE	ss5590524659	Oct 16, 2022 (156)
154	EVA	ss5624036840	Oct 16, 2022 (156)
155	SANFORD_IMAGENETICS	ss5624312522	Oct 16, 2022 (156)
156	SANFORD_IMAGENETICS	ss5653979227	Oct 16, 2022 (156)
157	TOMMO_GENOMICS	ss5758568004	Oct 16, 2022 (156)
158	EVA	ss5799884258	Oct 16, 2022 (156)
159	EVA	ss5800180452	Oct 16, 2022 (156)
160	YY_MCH	ss5813654938	Oct 16, 2022 (156)
161	EVA	ss5838530463	Oct 16, 2022 (156)
162	EVA	ss5847416025	Oct 16, 2022 (156)
163	EVA	ss5848363434	Oct 16, 2022 (156)
164	EVA	ss5850551392	Oct 16, 2022 (156)
165	EVA	ss5906071570	Oct 16, 2022 (156)
166	EVA	ss5936554522	Oct 16, 2022 (156)
167	EVA	ss5945387728	Oct 16, 2022 (156)
168	EVA	ss5979404465	Oct 16, 2022 (156)
169	EVA	ss5981278501	Oct 16, 2022 (156)
170	1000Genomes	NC_000012.11 - 113357442	Oct 12, 2018 (152)
171	1000Genomes_30x	NC_000012.12 - 112919637	Oct 16, 2022 (156)
172	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 113357442	Oct 12, 2018 (152)
173	Genome-wide autozygosity in Daghestan	NC_000012.10 - 111841825	Apr 27, 2020 (154)
174	Genetic variation in the Estonian population	NC_000012.11 - 113357442	Oct 12, 2018 (152)
175	ExAC	NC_000012.11 - 113357442	Oct 12, 2018 (152)
176	The Danish reference pan genome	NC_000012.11 - 113357442	Apr 27, 2020 (154)
177	gnomAD - Genomes	NC_000012.12 - 112919637	Apr 26, 2021 (155)
178	gnomAD - Exomes	NC_000012.11 - 113357442	Jul 13, 2019 (153)
179	GO Exome Sequencing Project	NC_000012.11 - 113357442	Oct 12, 2018 (152)
180	Genome of the Netherlands Release 5	NC_000012.11 - 113357442	Apr 27, 2020 (154)
181	HapMap	NC_000012.12 - 112919637	Apr 27, 2020 (154)
182	KOREAN population from KRGDB	NC_000012.11 - 113357442	Apr 27, 2020 (154)
183	Korean Genome Project	NC_000012.12 - 112919637	Apr 27, 2020 (154)
184	Medical Genome Project healthy controls from Spanish population	NC_000012.11 - 113357442	Apr 27, 2020 (154)
185	Northern Sweden	NC_000012.11 - 113357442	Jul 13, 2019 (153)
186	The PAGE Study	NC_000012.12 - 112919637	Jul 13, 2019 (153)
187	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 113357442	Apr 26, 2021 (155)
188	CNV burdens in cranial meningiomas	NC_000012.11 - 113357442	Apr 26, 2021 (155)
189	Qatari	NC_000012.11 - 113357442	Apr 27, 2020 (154)
190	SGDP_PRJ	NC_000012.11 - 113357442	Apr 27, 2020 (154)
191	Siberian	NC_000012.11 - 113357442	Apr 27, 2020 (154)
192	8.3KJPN	NC_000012.11 - 113357442	Apr 26, 2021 (155)
193	14KJPN	NC_000012.12 - 112919637	Oct 16, 2022 (156)
194	TopMed	NC_000012.12 - 112919637	Apr 26, 2021 (155)
195	UK 10K study - Twins	NC_000012.11 - 113357442	Oct 12, 2018 (152)
196	A Vietnamese Genetic Variation Database	NC_000012.11 - 113357442	Jul 13, 2019 (153)
197	ALFA	NC_000012.12 - 112919637	Apr 26, 2021 (155)
198	ClinVar	RCV001642144.2	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)
rs3168660	Jul 03, 2002 (106)
rs17834423	Oct 08, 2004 (123)
rs56511560	May 23, 2008 (130)
rs56662468	May 23, 2008 (130)
rs58192814	Dec 02, 2009 (131)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77248738, ss78711209, ss82285315, ss82451274	NC_000012.9:111820161:G:A	NC_000012.12:112919636:G:A	(self)
116555, ss66399070, ss76146599, ss89390680, ss112446216, ss114117524, ss119719143, ss168721577, ss170894654, ss172636298, ss198703482, ss208033558, ss281551203, ss286628496, ss291342128, ss480628539, ss1397645805, ss1642077635, ss1713358889, ss3642979265	NC_000012.10:111841824:G:A	NC_000012.12:112919636:G:A	(self)
59500116, 33046297, 23407027, 1435347, 3131087, 9390460, 1230736, 14739388, 35062959, 459615, 12676561, 841436, 222891, 15365951, 31153873, 8285178, 66193763, 33046297, 7331193, ss225966592, ss236091873, ss242618482, ss342367799, ss480643615, ss481484148, ss485109439, ss491473985, ss535378156, ss537113453, ss563411712, ss658994708, ss778875325, ss780692920, ss783000995, ss783366753, ss783961482, ss832258128, ss834336276, ss989971187, ss1078778422, ss1346687597, ss1427057334, ss1576531139, ss1629472958, ss1672466991, ss1691120140, ss1711343855, ss1752047050, ss1752047051, ss1807424526, ss1917879084, ss1933324021, ss1946350249, ss1959467189, ss1967683700, ss2027418828, ss2155768824, ss2628190516, ss2633009949, ss2700126921, ss2740152075, ss2748966074, ss2915329235, ss2984991497, ss3010368560, ss3021467533, ss3350253918, ss3626971557, ss3626971558, ss3626971559, ss3631016272, ss3633034622, ss3633736148, ss3634524348, ss3634524349, ss3635426609, ss3636210152, ss3637177617, ss3637987682, ss3640231681, ss3640231682, ss3644603253, ss3646447511, ss3651850560, ss3653761403, ss3677668779, ss3739391696, ss3744401296, ss3744825162, ss3744825163, ss3750978872, ss3772324362, ss3772324363, ss3787338807, ss3792420302, ss3797303385, ss3824773313, ss3825829329, ss3833330989, ss3840237370, ss3879136893, ss3927885565, ss3984037882, ss3984673395, ss3985615509, ss3986061033, ss3986586954, ss4017611352, ss5208224456, ss5315649949, ss5408308326, ss5624036840, ss5624312522, ss5653979227, ss5799884258, ss5800180452, ss5838530463, ss5847416025, ss5848363434, ss5936554522, ss5945387728, ss5979404465, ss5981278501	NC_000012.11:113357441:G:A	NC_000012.12:112919636:G:A	(self)
RCV001642144.2, 78050594, 419724946, 906698, 29132973, 939724, 92405108, 148777984, 7996094715, ss2193296660, ss3027519072, ss3649923753, ss3694490261, ss3725358556, ss3771718255, ss3816310461, ss3845726029, ss3972754972, ss4933232327, ss5236909389, ss5237222033, ss5237660895, ss5292276661, ss5486875256, ss5590524659, ss5758568004, ss5813654938, ss5850551392, ss5906071570	NC_000012.12:112919636:G:A	NC_000012.12:112919636:G:A	(self)
ss15825250, ss20883401	NT_009775.14:3876183:G:A	NC_000012.12:112919636:G:A	(self)
ss2690, ss1526290, ss4394788, ss4416688, ss24415263, ss38908277, ss48296084, ss65738341, ss74909002, ss76868627, ss81403980, ss97254434, ss105123001, ss133365697, ss137576119, ss157919051, ss159727295, ss160567488, ss173421494, ss244291415	NT_009775.17:3933971:G:A	NC_000012.12:112919636:G:A	(self)
35062959, ss3927885565	NC_000012.11:113357441:G:T	NC_000012.12:112919636:G:T	(self)

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

16 citations for rs2660

PMID	Title	Author	Year	Journal
15732009	Variation in antiviral 2',5'-oligoadenylate synthetase (2'5'AS) enzyme activity is controlled by a single-nucleotide polymorphism at a splice-acceptor site in the OAS1 gene.	Bonnevie-Nielsen V et al.	2005	American journal of human genetics
16251468	Survey of allelic expression using EST mining.	Ge B et al.	2005	Genome research
18518984	Genome-wide survey of allele-specific splicing in humans.	Nembaware V et al.	2008	BMC genomics
19247438	Genetic variation in OAS1 is a risk factor for initial infection with West Nile virus in man.	Lim JK et al.	2009	PLoS pathogens
19956105	Reassessment of the type I diabetes association of the OAS1 locus.	Qu HQ et al.	2009	Genes and immunity
20079393	2'-5'-Oligoadenylate synthetase single-nucleotide polymorphisms and haplotypes are associated with variations in immune responses to rubella vaccine.	Haralambieva IH et al.	2010	Human immunology
21638280	2'-5' oligoadenylate synthetase 1 polymorphism is associated with prostate cancer.	Mandal S et al.	2011	Cancer
21671143	Vaccinomics: current findings, challenges and novel approaches for vaccine development.	Ovsyannikova IG et al.	2011	The AAPS journal
21732819	Vaccinomics and a new paradigm for the development of preventive vaccines against viral infections.	Poland GA et al.	2011	Omics
22110538	Immunogenetic factors associated with severe respiratory illness caused by zoonotic H1N1 and H5N1 influenza viruses.	Juno J et al.	2012	Clinical & developmental immunology
22710942	Evaluate the relationship between polymorphisms of OAS1 gene and susceptibility to chronic hepatitis C with high resolution melting analysis.	Zhao Y et al.	2013	Clinical and experimental medicine
23133602	Pharmacogenetics of efficacy and safety of HCV treatment in HCV-HIV coinfected patients: significant associations with IL28B and SOCS3 gene variants.	Vidal F et al.	2012	PloS one
23272139	Association of the innate immunity and inflammation pathway with advanced prostate cancer risk.	Kazma R et al.	2012	PloS one
25744296	Oligoadenylate synthase-like (OASL) proteins: dual functions and associations with diseases.	Choi UY et al.	2015	Experimental & molecular medicine
26578562	Discover hidden splicing variations by mapping personal transcriptomes to personal genomes.	Stein S et al.	2015	Nucleic acids research
31068279	[OAS1 gene polymorphism is associated with central nervous system involvement in children with enterovirus 71 infection].	Yaping LI et al.	2019	Nan fang yi ke da xue xue bao = Journal of Southern Medical University

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
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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

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2660