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dbSNP Short Genetic Variations

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 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr12:112919637 (GRCh38.p12) 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=0.285208 (67425/236406, GnomAD_exome)
G=0.340495 (52364/153788, ALFA Project)
G=0.245134 (30781/125568, TOPMED) (+ 20 more)
G=0.266581 (27806/104306, ExAC)
G=0.15375 (12100/78700, PAGE_STUDY)
G=0.23854 (7474/31332, GnomAD)
G=0.26019 (3384/13006, GO-ESP)
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=0.297 (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=0.21 (12/56, Siberian)
G=0.33 (13/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
OAS1 : Stop Gained
Publications
16 citations
Genomic View
See rs on genome
Help

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.p12 chr 12 NC_000012.12:g.112919637G>A
GRCh38.p12 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_002534.3: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 X4 XM_017019362.1:c.*84= N/A 3 Prime UTR Variant
OAS1 transcript variant X2 XM_017019361.2:c.*84= N/A 3 Prime UTR Variant
OAS1 transcript variant X3 XM_006719434.2:c.*924= N/A 3 Prime UTR Variant
OAS1 transcript variant X1 XM_011538413.2: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_011538413.2: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
OAS1 transcript variant X5 XR_944558.2:n. N/A Genic Downstream Transcript Variant
Help

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.

Not Reported in ClinVar

ALFA Allele Frequency (New)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 309604 G=0.340134 A=0.659866
European Sub 260764 G=0.357507 A=0.642493
African Sub 8882 G=0.0893 A=0.9107
African Others Sub 316 G=0.022 A=0.978
African American Sub 8566 G=0.0918 A=0.9082
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 22328 G=0.33375 A=0.66625


Help

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
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
ALFA Total Global 153788 G=0.340495 A=0.659505
ALFA European Sub 130132 G=0.358521 A=0.641479
ALFA Other Sub 10496 G=0.33660 A=0.66340
ALFA Latin American 2 Sub 7570 G=0.1888 A=0.8112
ALFA African Sub 4392 G=0.1082 A=0.8918
ALFA Latin American 1 Sub 704 G=0.239 A=0.761
ALFA Asian Sub 412 G=0.209 A=0.791
ALFA South Asian Sub 82 G=0.22 A=0.78
TopMed Global Study-wide 125568 G=0.245134 A=0.754866
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
gnomAD - Genomes Global Study-wide 31332 G=0.23854 A=0.76146
gnomAD - Genomes European Sub 18866 G=0.31506 A=0.68494
gnomAD - Genomes African Sub 8694 G=0.0694 A=0.9306
gnomAD - Genomes East Asian Sub 1552 G=0.2101 A=0.7899
gnomAD - Genomes Other Sub 1082 G=0.2680 A=0.7320
gnomAD - Genomes American Sub 848 G=0.219 A=0.781
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.431 A=0.569
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 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
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
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
Help

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.p12 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 X3 XM_006719434.2:c.*924= XM_006719434.2:c.*924G>A XM_006719434.2:c.*924G>T
OAS1 transcript variant X2 XM_017019361.2:c.*84= XM_017019361.2:c.*84G>A XM_017019361.2:c.*84G>T
OAS1 transcript variant X1 XM_011538413.2:c.1165= XM_011538413.2:c.1165G>A XM_011538413.2:c.1165G>T
OAS1 transcript variant X4 XM_017019362.1:c.*84= XM_017019362.1:c.*84G>A XM_017019362.1:c.*84G>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
Help

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#.

139 SubSNP, 23 Frequency 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 TOPMED ss2357319993 Dec 20, 2016 (150)
85 SYSTEMSBIOZJU ss2628190516 Nov 08, 2017 (151)
86 ILLUMINA ss2633009949 Nov 08, 2017 (151)
87 GRF ss2700126921 Nov 08, 2017 (151)
88 GNOMAD ss2740152075 Nov 08, 2017 (151)
89 GNOMAD ss2748966074 Nov 08, 2017 (151)
90 GNOMAD ss2915329235 Nov 08, 2017 (151)
91 AFFY ss2984991497 Nov 08, 2017 (151)
92 SWEGEN ss3010368560 Nov 08, 2017 (151)
93 ILLUMINA ss3021467533 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3027519072 Nov 08, 2017 (151)
95 TOPMED ss3182010131 Nov 08, 2017 (151)
96 CSHL ss3350253918 Nov 08, 2017 (151)
97 ILLUMINA ss3626971557 Oct 12, 2018 (152)
98 ILLUMINA ss3626971558 Oct 12, 2018 (152)
99 ILLUMINA ss3626971559 Oct 12, 2018 (152)
100 ILLUMINA ss3631016272 Oct 12, 2018 (152)
101 ILLUMINA ss3633034622 Oct 12, 2018 (152)
102 ILLUMINA ss3633736148 Oct 12, 2018 (152)
103 ILLUMINA ss3634524348 Oct 12, 2018 (152)
104 ILLUMINA ss3634524349 Oct 12, 2018 (152)
105 ILLUMINA ss3635426609 Oct 12, 2018 (152)
106 ILLUMINA ss3636210152 Oct 12, 2018 (152)
107 ILLUMINA ss3637177617 Oct 12, 2018 (152)
108 ILLUMINA ss3637987682 Oct 12, 2018 (152)
109 ILLUMINA ss3640231681 Oct 12, 2018 (152)
110 ILLUMINA ss3640231682 Oct 12, 2018 (152)
111 ILLUMINA ss3642979265 Oct 12, 2018 (152)
112 ILLUMINA ss3644603253 Oct 12, 2018 (152)
113 OMUKHERJEE_ADBS ss3646447511 Oct 12, 2018 (152)
114 URBANLAB ss3649923753 Oct 12, 2018 (152)
115 ILLUMINA ss3651850560 Oct 12, 2018 (152)
116 ILLUMINA ss3653761403 Oct 12, 2018 (152)
117 EGCUT_WGS ss3677668779 Jul 13, 2019 (153)
118 EVA_DECODE ss3694490261 Jul 13, 2019 (153)
119 ILLUMINA ss3725358556 Jul 13, 2019 (153)
120 ACPOP ss3739391696 Jul 13, 2019 (153)
121 ILLUMINA ss3744401296 Jul 13, 2019 (153)
122 ILLUMINA ss3744825162 Jul 13, 2019 (153)
123 ILLUMINA ss3744825163 Jul 13, 2019 (153)
124 EVA ss3750978872 Jul 13, 2019 (153)
125 PAGE_CC ss3771718255 Jul 13, 2019 (153)
126 ILLUMINA ss3772324362 Jul 13, 2019 (153)
127 ILLUMINA ss3772324363 Jul 13, 2019 (153)
128 PACBIO ss3787338807 Jul 13, 2019 (153)
129 PACBIO ss3792420302 Jul 13, 2019 (153)
130 PACBIO ss3797303385 Jul 13, 2019 (153)
131 KHV_HUMAN_GENOMES ss3816310461 Jul 13, 2019 (153)
132 EVA ss3824773313 Apr 27, 2020 (154)
133 EVA ss3825829329 Apr 27, 2020 (154)
134 EVA ss3833330989 Apr 27, 2020 (154)
135 EVA ss3840237370 Apr 27, 2020 (154)
136 EVA ss3845726029 Apr 27, 2020 (154)
137 SGDP_PRJ ss3879136893 Apr 27, 2020 (154)
138 KRGDB ss3927885565 Apr 27, 2020 (154)
139 KOGIC ss3972754972 Apr 27, 2020 (154)
140 1000Genomes NC_000012.11 - 113357442 Oct 12, 2018 (152)
141 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 113357442 Oct 12, 2018 (152)
142 Genome-wide autozygosity in Daghestan NC_000012.10 - 111841825 Apr 27, 2020 (154)
143 Genetic variation in the Estonian population NC_000012.11 - 113357442 Oct 12, 2018 (152)
144 ExAC NC_000012.11 - 113357442 Oct 12, 2018 (152)
145 The Danish reference pan genome NC_000012.11 - 113357442 Apr 27, 2020 (154)
146 gnomAD - Genomes NC_000012.11 - 113357442 Jul 13, 2019 (153)
147 gnomAD - Exomes NC_000012.11 - 113357442 Jul 13, 2019 (153)
148 GO Exome Sequencing Project NC_000012.11 - 113357442 Oct 12, 2018 (152)
149 Genome of the Netherlands Release 5 NC_000012.11 - 113357442 Apr 27, 2020 (154)
150 HapMap NC_000012.12 - 112919637 Apr 27, 2020 (154)
151 KOREAN population from KRGDB NC_000012.11 - 113357442 Apr 27, 2020 (154)
152 Korean Genome Project NC_000012.12 - 112919637 Apr 27, 2020 (154)
153 Medical Genome Project healthy controls from Spanish population NC_000012.11 - 113357442 Apr 27, 2020 (154)
154 Northern Sweden NC_000012.11 - 113357442 Jul 13, 2019 (153)
155 The PAGE Study NC_000012.12 - 112919637 Jul 13, 2019 (153)
156 Qatari NC_000012.11 - 113357442 Apr 27, 2020 (154)
157 SGDP_PRJ NC_000012.11 - 113357442 Apr 27, 2020 (154)
158 Siberian NC_000012.11 - 113357442 Apr 27, 2020 (154)
159 TopMed NC_000012.12 - 112919637 Oct 12, 2018 (152)
160 UK 10K study - Twins NC_000012.11 - 113357442 Oct 12, 2018 (152)
161 A Vietnamese Genetic Variation Database NC_000012.11 - 113357442 Jul 13, 2019 (153)
162 dbGaP Population Frequency Project NC_000012.12 - 112919637 Apr 27, 2020 (154)
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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, 162457204, 9390460, 1230736, 14739388, 35062959, 459615, 12676561, 15365951, 31153873, 8285178, 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, ss2357319993, 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 NC_000012.11:113357441:G:A NC_000012.12:112919636:G:A (self)
906698, 29132973, 939724, 93072911, 155296272, ss2193296660, ss3027519072, ss3182010131, ss3649923753, ss3694490261, ss3725358556, ss3771718255, ss3816310461, ss3845726029, ss3972754972 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
Help

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 [<i>OAS1</i> 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
Help

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.

Software version is: 2.0.1.post565+e32b82c