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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.

rs10774671

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr12:112919388 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.328328 (81617/248584, GnomAD_exome)
G=0.365444 (53691/146920, ALFA Project)
G=0.408034 (51236/125568, TOPMED) (+ 18 more)
G=0.331474 (39873/120290, ExAC)
G=0.40467 (31848/78702, PAGE_STUDY)
G=0.38289 (11999/31338, GnomAD)
G=0.43049 (5599/13006, GO-ESP)
G=0.3856 (1931/5008, 1000G)
G=0.2761 (1237/4480, Estonian)
G=0.3420 (1318/3854, ALSPAC)
G=0.3579 (1327/3708, TWINSUK)
G=0.2345 (687/2930, KOREAN)
G=0.4466 (844/1890, HapMap)
G=0.2434 (446/1832, Korea1K)
G=0.319 (318/998, GoNL)
G=0.272 (163/600, NorthernSweden)
G=0.356 (190/534, MGP)
G=0.247 (119/482, SGDP_PRJ)
G=0.270 (82/304, FINRISK)
G=0.468 (101/216, Qatari)
G=0.21 (12/56, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
OAS1 : Splice Acceptor Variant
Publications
39 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.112919388G>A
GRCh38.p12 chr 12 NC_000012.12:g.112919388G>C
GRCh37.p13 chr 12 NC_000012.11:g.113357193G>A
GRCh37.p13 chr 12 NC_000012.11:g.113357193G>C
OAS1 RefSeqGene NG_011530.2:g.17455G>A
OAS1 RefSeqGene NG_011530.2:g.17455G>C
Gene: OAS1, 2'-5'-oligoadenylate synthetase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
OAS1 transcript variant 1 NM_016816.4:c. N/A Splice Acceptor Variant
OAS1 transcript variant 3 NM_001032409.3:c.1039-99G…

NM_001032409.3:c.1039-99G>A

N/A Intron Variant
OAS1 transcript variant 4 NM_001320151.2:c.1038+168…

NM_001320151.2:c.1038+1688G>A

N/A Intron Variant
OAS1 transcript variant 2 NM_002534.3:c. N/A Genic Downstream Transcript Variant
OAS1 transcript variant X2 XM_017019361.2:c. N/A Splice Acceptor Variant
OAS1 transcript variant X4 XM_017019362.1:c. N/A Splice Acceptor Variant
OAS1 transcript variant X1 XM_011538413.2:c.1015-99G…

XM_011538413.2:c.1015-99G>A

N/A Intron Variant
OAS1 transcript variant X3 XM_006719434.2:c.*675= N/A 3 Prime UTR Variant
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.

Allele: G= (allele ID: 29023 )
ClinVar Accession Disease Names Clinical Significance
RCV000015021.3 Diabetes mellitus, type 1, susceptibility to Uncertain-Significance

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 301842 G=0.365343 A=0.634657, C=0.000000
European Sub 256676 G=0.364226 A=0.635774, C=0.000000
African Sub 8296 G=0.5743 A=0.4257, C=0.0000
African Others Sub 288 G=0.670 A=0.330, C=0.000
African American Sub 8008 G=0.5708 A=0.4292, C=0.0000
Asian Sub 6854 G=0.2524 A=0.7476, C=0.0000
East Asian Sub 4900 G=0.2484 A=0.7516, C=0.0000
Other Asian Sub 1954 G=0.2625 A=0.7375, C=0.0000
Latin American 1 Sub 1394 G=0.4297 A=0.5703, C=0.0000
Latin American 2 Sub 6656 G=0.2237 A=0.7763, C=0.0000
South Asian Sub 366 G=0.309 A=0.691, C=0.000
Other Sub 21600 G=0.37468 A=0.62532, C=0.00000


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 248584 G=0.328328 A=0.671672
gnomAD - Exomes European Sub 133334 G=0.331506 A=0.668494
gnomAD - Exomes Asian Sub 48688 G=0.27339 A=0.72661
gnomAD - Exomes American Sub 34432 G=0.20707 A=0.79293
gnomAD - Exomes African Sub 16224 G=0.58321 A=0.41679
gnomAD - Exomes Ashkenazi Jewish Sub 9844 G=0.5428 A=0.4572
gnomAD - Exomes Other Sub 6062 G=0.3580 A=0.6420
ALFA Total Global 146920 G=0.365444 A=0.634556
ALFA European Sub 126910 G=0.365306 A=0.634694
ALFA Other Sub 9856 G=0.3791 A=0.6209
ALFA Latin American 2 Sub 5414 G=0.2146 A=0.7854
ALFA African Sub 3750 G=0.5661 A=0.4339
ALFA Latin American 1 Sub 556 G=0.387 A=0.613
ALFA Asian Sub 366 G=0.221 A=0.779
ALFA South Asian Sub 68 G=0.19 A=0.81
TopMed Global Study-wide 125568 G=0.408034 A=0.591966
ExAC Global Study-wide 120290 G=0.331474 A=0.668526
ExAC Europe Sub 72894 G=0.33835 A=0.66165
ExAC Asian Sub 24610 G=0.26952 A=0.73048
ExAC American Sub 11546 G=0.20033 A=0.79967
ExAC African Sub 10338 G=0.57545 A=0.42455
ExAC Other Sub 902 G=0.348 A=0.652
The PAGE Study Global Study-wide 78702 G=0.40467 A=0.59533
The PAGE Study AfricanAmerican Sub 32516 G=0.57264 A=0.42736
The PAGE Study Mexican Sub 10810 G=0.22248 A=0.77752
The PAGE Study Asian Sub 8318 G=0.2140 A=0.7860
The PAGE Study PuertoRican Sub 7918 G=0.3649 A=0.6351
The PAGE Study NativeHawaiian Sub 4534 G=0.2466 A=0.7534
The PAGE Study Cuban Sub 4230 G=0.3605 A=0.6395
The PAGE Study Dominican Sub 3828 G=0.4676 A=0.5324
The PAGE Study CentralAmerican Sub 2450 G=0.2302 A=0.7698
The PAGE Study SouthAmerican Sub 1982 G=0.2376 A=0.7624
The PAGE Study NativeAmerican Sub 1260 G=0.3413 A=0.6587
The PAGE Study SouthAsian Sub 856 G=0.299 A=0.701
gnomAD - Genomes Global Study-wide 31338 G=0.38289 A=0.61711
gnomAD - Genomes European Sub 18882 G=0.31670 A=0.68330
gnomAD - Genomes African Sub 8678 G=0.5758 A=0.4242
gnomAD - Genomes East Asian Sub 1556 G=0.2089 A=0.7911
gnomAD - Genomes Other Sub 1086 G=0.3011 A=0.6989
gnomAD - Genomes American Sub 846 G=0.277 A=0.723
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.469 A=0.531
GO Exome Sequencing Project Global Study-wide 13006 G=0.43049 A=0.56951
GO Exome Sequencing Project European American Sub 8600 G=0.3616 A=0.6384
GO Exome Sequencing Project African American Sub 4406 G=0.5649 A=0.4351
1000Genomes Global Study-wide 5008 G=0.3856 A=0.6144
1000Genomes African Sub 1322 G=0.6399 A=0.3601
1000Genomes East Asian Sub 1008 G=0.2550 A=0.7450
1000Genomes Europe Sub 1006 G=0.3519 A=0.6481
1000Genomes South Asian Sub 978 G=0.290 A=0.710
1000Genomes American Sub 694 G=0.274 A=0.726
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.2761 A=0.7239
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3420 A=0.6580
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3579 A=0.6421
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.2345 A=0.7655, C=0.0000
HapMap Global Study-wide 1890 G=0.4466 A=0.5534
HapMap American Sub 768 G=0.323 A=0.677
HapMap African Sub 692 G=0.675 A=0.325
HapMap Asian Sub 254 G=0.201 A=0.799
HapMap Europe Sub 176 G=0.443 A=0.557
Korean Genome Project KOREAN Study-wide 1832 G=0.2434 A=0.7566
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.319 A=0.681
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=0.356 A=0.644
SGDP_PRJ Global Study-wide 482 G=0.247 A=0.753
FINRISK Finnish from FINRISK project Study-wide 304 G=0.270 A=0.730
Qatari Global Study-wide 216 G=0.468 A=0.532
Siberian Global Study-wide 56 G=0.21 A=0.79
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 C
GRCh38.p12 chr 12 NC_000012.12:g.112919388= NC_000012.12:g.112919388G>A NC_000012.12:g.112919388G>C
GRCh37.p13 chr 12 NC_000012.11:g.113357193= NC_000012.11:g.113357193G>A NC_000012.11:g.113357193G>C
OAS1 RefSeqGene NG_011530.2:g.17455= NG_011530.2:g.17455G>A NG_011530.2:g.17455G>C
OAS1 transcript variant X3 XM_006719434.2:c.*675= XM_006719434.2:c.*675G>A XM_006719434.2:c.*675G>C
OAS1 transcript variant 3 NM_001032409.1:c.1039-99= NM_001032409.1:c.1039-99G>A NM_001032409.1:c.1039-99G>C
OAS1 transcript variant 3 NM_001032409.3:c.1039-99= NM_001032409.3:c.1039-99G>A NM_001032409.3:c.1039-99G>C
OAS1 transcript variant 4 NM_001320151.2:c.1038+1688= NM_001320151.2:c.1038+1688G>A NM_001320151.2:c.1038+1688G>C
OAS1 transcript variant X1 XM_011538413.2:c.1015-99= XM_011538413.2:c.1015-99G>A XM_011538413.2:c.1015-99G>C
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#.

133 SubSNP, 21 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15929356 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss16591415 Feb 27, 2004 (120)
3 SC_SNP ss18536922 Feb 27, 2004 (120)
4 SC_SNP ss18992589 Feb 27, 2004 (120)
5 SSAHASNP ss20974094 Apr 05, 2004 (121)
6 PERLEGEN ss23395245 Sep 20, 2004 (123)
7 ABI ss38992250 Mar 13, 2006 (126)
8 SNP500CANCER ss48296082 Mar 13, 2006 (126)
9 ILLUMINA ss65724878 Oct 13, 2006 (127)
10 ILLUMINA ss74874873 Dec 07, 2007 (129)
11 CGM_KYOTO ss76868623 Dec 07, 2007 (129)
12 HGSV ss77676209 Dec 07, 2007 (129)
13 HGSV ss84038624 Dec 14, 2007 (130)
14 BCMHGSC_JDW ss89390668 Mar 24, 2008 (129)
15 HUMANGENOME_JCVI ss97254431 Feb 04, 2009 (130)
16 BGI ss105122997 Dec 01, 2009 (131)
17 1000GENOMES ss112446206 Jan 25, 2009 (130)
18 KRIBB_YJKIM ss119627271 Dec 01, 2009 (131)
19 ENSEMBL ss133365688 Dec 01, 2009 (131)
20 ENSEMBL ss137576128 Dec 01, 2009 (131)
21 GMI ss157919034 Dec 01, 2009 (131)
22 SEATTLESEQ ss159747212 Dec 01, 2009 (131)
23 ILLUMINA ss159918671 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss168721568 Jul 04, 2010 (132)
25 ILLUMINA ss170501498 Jul 04, 2010 (132)
26 BUSHMAN ss198703467 Jul 04, 2010 (132)
27 BCM-HGSC-SUB ss208075418 Jul 04, 2010 (132)
28 1000GENOMES ss225966589 Jul 14, 2010 (132)
29 1000GENOMES ss236091870 Jul 15, 2010 (132)
30 1000GENOMES ss242618478 Jul 15, 2010 (132)
31 BL ss255348864 May 09, 2011 (134)
32 GMI ss281551200 May 04, 2012 (137)
33 GMI ss286628493 Apr 25, 2013 (138)
34 PJP ss291342125 May 09, 2011 (134)
35 ILLUMINA ss479342712 May 04, 2012 (137)
36 ILLUMINA ss479345865 May 04, 2012 (137)
37 ILLUMINA ss479740697 Sep 08, 2015 (146)
38 ILLUMINA ss484471566 May 04, 2012 (137)
39 1000GENOMES ss491051897 May 04, 2012 (137)
40 EXOME_CHIP ss491473979 May 04, 2012 (137)
41 CLINSEQ_SNP ss491672869 May 04, 2012 (137)
42 ILLUMINA ss536632236 Sep 08, 2015 (146)
43 TISHKOFF ss563411707 Apr 25, 2013 (138)
44 SSMP ss658994703 Apr 25, 2013 (138)
45 NHLBI-ESP ss713131413 Apr 25, 2013 (138)
46 ILLUMINA ss778739520 Sep 08, 2015 (146)
47 ILLUMINA ss780692914 Sep 08, 2015 (146)
48 ILLUMINA ss782682334 Sep 08, 2015 (146)
49 ILLUMINA ss783366747 Sep 08, 2015 (146)
50 ILLUMINA ss783650778 Sep 08, 2015 (146)
51 ILLUMINA ss831933143 Sep 08, 2015 (146)
52 ILLUMINA ss834199085 Sep 08, 2015 (146)
53 JMKIDD_LAB ss974485248 Aug 21, 2014 (142)
54 EVA-GONL ss989971183 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1067537846 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1078778416 Aug 21, 2014 (142)
57 1000GENOMES ss1346687585 Aug 21, 2014 (142)
58 DDI ss1427057331 Apr 01, 2015 (144)
59 EVA_FINRISK ss1584084635 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1629472950 Apr 01, 2015 (144)
61 EVA_DECODE ss1642077630 Apr 01, 2015 (144)
62 EVA_UK10K_TWINSUK ss1672466983 Apr 01, 2015 (144)
63 EVA_EXAC ss1691120089 Apr 01, 2015 (144)
64 EVA_MGP ss1711343852 Apr 01, 2015 (144)
65 EVA_SVP ss1713358887 Apr 01, 2015 (144)
66 ILLUMINA ss1752047043 Sep 08, 2015 (146)
67 ILLUMINA ss1752047044 Sep 08, 2015 (146)
68 HAMMER_LAB ss1807424523 Sep 08, 2015 (146)
69 ILLUMINA ss1917879079 Feb 12, 2016 (147)
70 WEILL_CORNELL_DGM ss1933324015 Feb 12, 2016 (147)
71 ILLUMINA ss1946350241 Feb 12, 2016 (147)
72 ILLUMINA ss1959467180 Feb 12, 2016 (147)
73 GENOMED ss1967683697 Jul 19, 2016 (147)
74 JJLAB ss2027418825 Sep 14, 2016 (149)
75 USC_VALOUEV ss2155768821 Dec 20, 2016 (150)
76 HUMAN_LONGEVITY ss2193296645 Dec 20, 2016 (150)
77 TOPMED ss2357319980 Dec 20, 2016 (150)
78 SYSTEMSBIOZJU ss2628190513 Nov 08, 2017 (151)
79 ILLUMINA ss2633009947 Nov 08, 2017 (151)
80 GRF ss2700126918 Nov 08, 2017 (151)
81 GNOMAD ss2740152005 Nov 08, 2017 (151)
82 GNOMAD ss2748966051 Nov 08, 2017 (151)
83 GNOMAD ss2915329212 Nov 08, 2017 (151)
84 AFFY ss2984991488 Nov 08, 2017 (151)
85 AFFY ss2985627383 Nov 08, 2017 (151)
86 SWEGEN ss3010368556 Nov 08, 2017 (151)
87 ILLUMINA ss3021467525 Nov 08, 2017 (151)
88 BIOINF_KMB_FNS_UNIBA ss3027519069 Nov 08, 2017 (151)
89 TOPMED ss3182010089 Nov 08, 2017 (151)
90 TOPMED ss3182010090 Nov 08, 2017 (151)
91 CSHL ss3350253915 Nov 08, 2017 (151)
92 ILLUMINA ss3626971547 Oct 12, 2018 (152)
93 ILLUMINA ss3626971548 Oct 12, 2018 (152)
94 ILLUMINA ss3631016270 Oct 12, 2018 (152)
95 ILLUMINA ss3633034620 Oct 12, 2018 (152)
96 ILLUMINA ss3633736146 Oct 12, 2018 (152)
97 ILLUMINA ss3634524340 Oct 12, 2018 (152)
98 ILLUMINA ss3634524341 Oct 12, 2018 (152)
99 ILLUMINA ss3635426607 Oct 12, 2018 (152)
100 ILLUMINA ss3636210149 Oct 12, 2018 (152)
101 ILLUMINA ss3637177615 Oct 12, 2018 (152)
102 ILLUMINA ss3637987679 Oct 12, 2018 (152)
103 ILLUMINA ss3640231673 Oct 12, 2018 (152)
104 ILLUMINA ss3640231674 Oct 12, 2018 (152)
105 ILLUMINA ss3642979262 Oct 12, 2018 (152)
106 ILLUMINA ss3644603244 Oct 12, 2018 (152)
107 OMUKHERJEE_ADBS ss3646447508 Oct 12, 2018 (152)
108 URBANLAB ss3649923750 Oct 12, 2018 (152)
109 ILLUMINA ss3651850552 Oct 12, 2018 (152)
110 ILLUMINA ss3653761393 Oct 12, 2018 (152)
111 EGCUT_WGS ss3677668774 Jul 13, 2019 (153)
112 EVA_DECODE ss3694490252 Jul 13, 2019 (153)
113 ILLUMINA ss3725358548 Jul 13, 2019 (153)
114 ACPOP ss3739391692 Jul 13, 2019 (153)
115 ILLUMINA ss3744401289 Jul 13, 2019 (153)
116 ILLUMINA ss3744825154 Jul 13, 2019 (153)
117 ILLUMINA ss3744825155 Jul 13, 2019 (153)
118 EVA ss3750978868 Jul 13, 2019 (153)
119 PAGE_CC ss3771718246 Jul 13, 2019 (153)
120 ILLUMINA ss3772324355 Jul 13, 2019 (153)
121 ILLUMINA ss3772324356 Jul 13, 2019 (153)
122 PACBIO ss3787338803 Jul 13, 2019 (153)
123 PACBIO ss3792420299 Jul 13, 2019 (153)
124 PACBIO ss3797303382 Jul 13, 2019 (153)
125 KHV_HUMAN_GENOMES ss3816310454 Jul 13, 2019 (153)
126 EVA ss3824773299 Apr 27, 2020 (154)
127 EVA ss3825829326 Apr 27, 2020 (154)
128 EVA ss3833330986 Apr 27, 2020 (154)
129 EVA ss3840237367 Apr 27, 2020 (154)
130 EVA ss3845726026 Apr 27, 2020 (154)
131 SGDP_PRJ ss3879136885 Apr 27, 2020 (154)
132 KRGDB ss3927885559 Apr 27, 2020 (154)
133 KOGIC ss3972754967 Apr 27, 2020 (154)
134 1000Genomes NC_000012.11 - 113357193 Oct 12, 2018 (152)
135 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 113357193 Oct 12, 2018 (152)
136 Genetic variation in the Estonian population NC_000012.11 - 113357193 Oct 12, 2018 (152)
137 ExAC NC_000012.11 - 113357193 Oct 12, 2018 (152)
138 FINRISK NC_000012.11 - 113357193 Apr 27, 2020 (154)
139 gnomAD - Genomes NC_000012.11 - 113357193 Jul 13, 2019 (153)
140 gnomAD - Exomes NC_000012.11 - 113357193 Jul 13, 2019 (153)
141 GO Exome Sequencing Project NC_000012.11 - 113357193 Oct 12, 2018 (152)
142 Genome of the Netherlands Release 5 NC_000012.11 - 113357193 Apr 27, 2020 (154)
143 HapMap NC_000012.12 - 112919388 Apr 27, 2020 (154)
144 KOREAN population from KRGDB NC_000012.11 - 113357193 Apr 27, 2020 (154)
145 Korean Genome Project NC_000012.12 - 112919388 Apr 27, 2020 (154)
146 Medical Genome Project healthy controls from Spanish population NC_000012.11 - 113357193 Apr 27, 2020 (154)
147 Northern Sweden NC_000012.11 - 113357193 Jul 13, 2019 (153)
148 The PAGE Study NC_000012.12 - 112919388 Jul 13, 2019 (153)
149 Qatari NC_000012.11 - 113357193 Apr 27, 2020 (154)
150 SGDP_PRJ NC_000012.11 - 113357193 Apr 27, 2020 (154)
151 Siberian NC_000012.11 - 113357193 Apr 27, 2020 (154)
152 TopMed NC_000012.12 - 112919388 Oct 12, 2018 (152)
153 UK 10K study - Twins NC_000012.11 - 113357193 Oct 12, 2018 (152)
154 dbGaP Population Frequency Project NC_000012.12 - 112919388 Apr 27, 2020 (154)
155 ClinVar RCV000015021.3 Oct 12, 2018 (152)
Help

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)
rs57204057 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77676209, ss84038624 NC_000012.9:111819912:G:A NC_000012.12:112919387:G:A (self)
ss89390668, ss112446206, ss168721568, ss198703467, ss208075418, ss255348864, ss281551200, ss286628493, ss291342125, ss479342712, ss491672869, ss1642077630, ss1713358887, ss3642979262 NC_000012.10:111841575:G:A NC_000012.12:112919387:G:A (self)
59500105, 33046289, 23407022, 1435292, 81096, 162457178, 9390378, 1230722, 14739384, 35062953, 459612, 12676557, 15365945, 31153865, 8285175, 33046289, ss225966589, ss236091870, ss242618478, ss479345865, ss479740697, ss484471566, ss491051897, ss491473979, ss536632236, ss563411707, ss658994703, ss713131413, ss778739520, ss780692914, ss782682334, ss783366747, ss783650778, ss831933143, ss834199085, ss974485248, ss989971183, ss1067537846, ss1078778416, ss1346687585, ss1427057331, ss1584084635, ss1629472950, ss1672466983, ss1691120089, ss1711343852, ss1752047043, ss1752047044, ss1807424523, ss1917879079, ss1933324015, ss1946350241, ss1959467180, ss1967683697, ss2027418825, ss2155768821, ss2357319980, ss2628190513, ss2633009947, ss2700126918, ss2740152005, ss2748966051, ss2915329212, ss2984991488, ss2985627383, ss3010368556, ss3021467525, ss3350253915, ss3626971547, ss3626971548, ss3631016270, ss3633034620, ss3633736146, ss3634524340, ss3634524341, ss3635426607, ss3636210149, ss3637177615, ss3637987679, ss3640231673, ss3640231674, ss3644603244, ss3646447508, ss3651850552, ss3653761393, ss3677668774, ss3739391692, ss3744401289, ss3744825154, ss3744825155, ss3750978868, ss3772324355, ss3772324356, ss3787338803, ss3792420299, ss3797303382, ss3824773299, ss3825829326, ss3833330986, ss3840237367, ss3879136885, ss3927885559 NC_000012.11:113357192:G:A NC_000012.12:112919387:G:A (self)
906694, 29132968, 939715, 93072880, 108269897, ss2193296645, ss3027519069, ss3182010089, ss3649923750, ss3694490252, ss3725358548, ss3771718246, ss3816310454, ss3845726026, ss3972754967 NC_000012.12:112919387:G:A NC_000012.12:112919387:G:A (self)
ss15929356, ss16591415, ss18536922, ss18992589, ss20974094 NT_009775.14:3875934:G:A NC_000012.12:112919387:G:A (self)
ss23395245, ss38992250, ss48296082, ss65724878, ss74874873, ss76868623, ss97254431, ss105122997, ss119627271, ss133365688, ss137576128, ss157919034, ss159747212, ss159918671, ss170501498 NT_009775.17:3933722:G:A NC_000012.12:112919387:G:A (self)
35062953, ss3927885559 NC_000012.11:113357192:G:C NC_000012.12:112919387:G:C
ss3182010090 NC_000012.12:112919387:G:C NC_000012.12:112919387:G:C (self)
Help

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

39 citations for rs10774671
PMID Title Author Year Journal
2573556 Association of IDDM and attenuated response of 2',5'-oligoadenylate synthetase to yellow fever vaccine. Bonnevie-Nielsen V et al. 1989 Diabetes
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
15855350 OAS1 splice site polymorphism controlling antiviral enzyme activity influences susceptibility to type 1 diabetes. Field LL et al. 2005 Diabetes
16014697 Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype? Tessier MC et al. 2006 Journal of medical genetics
16644715 No evidence for association of OAS1 with type 1 diabetes in unaffected siblings or type 1 diabetic cases. Smyth DJ et al. 2006 Diabetes
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
19799013 [Relationship between SNP rs10774671 on OAS-1 gene and spontaneous HBeAg seroconversion in chronic HBV infection]. Chen LB et al. 2009 Zhonghua shi yan he lin chuang bing du xue za zhi = Zhonghua shiyan he linchuang bingduxue zazhi = Chinese journal of experimental and clinical virology
19956101 Overview of the Rapid Response data. Brown WM et al. 2009 Genes and immunity
19956105 Reassessment of the type I diabetes association of the OAS1 locus. Qu HQ et al. 2009 Genes and immunity
19956106 Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families. Howson JM et al. 2009 Genes and immunity
19956109 The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome. Julier C 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
20195503 Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals. Rotger M et al. 2010 PLoS pathogens
20220758 Understanding mechanisms underlying human gene expression variation with RNA sequencing. Pickrell JK et al. 2010 Nature
21173033 RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Lalonde E et al. 2011 Genome research
21216866 A functional Toll-like receptor 3 gene (TLR3) may be a risk factor for tick-borne encephalitis virus (TBEV) infection. Kindberg E et al. 2011 The Journal of infectious diseases
21638280 2'-5' oligoadenylate synthetase 1 polymorphism is associated with prostate cancer. Mandal S et al. 2011 Cancer
21735172 Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis. Cagliani R et al. 2012 Human genetics
21935451 Host genetic risk factors for West Nile virus infection and disease progression. Bigham AW et al. 2011 PloS one
21939710 Genetic polymorphisms in host antiviral genes: associations with humoral and cellular immunity to measles vaccine. Haralambieva IH et al. 2011 Vaccine
22095823 Genetic variation of pre-mRNA alternative splicing in human populations. Lu ZX et al. 2012 Wiley interdisciplinary reviews. RNA
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
23220500 Differential effects of a common splice site polymorphism on the generation of OAS1 variants in human bronchial epithelial cells. Noguchi S et al. 2013 Human immunology
23337612 Polymorphisms in the oligoadenylate synthetase gene cluster and its association with clinical outcomes of dengue virus infection. Alagarasu K et al. 2013 Infection, genetics and evolution
25059424 Association analysis of polymorphisms in OAS1 with susceptibility and severity of hand, foot and mouth disease. Cai Y et al. 2014 International journal of immunogenetics
25744296 Oligoadenylate synthase-like (OASL) proteins: dual functions and associations with diseases. Choi UY et al. 2015 Experimental & molecular medicine
26398832 Association of Oligoadenylate Synthetase Gene Cluster and DC-SIGN (CD209) Gene Polymorphisms with Clinical Symptoms in Chikungunya Virus Infection. Chaaithanya IK et al. 2016 DNA and cell biology
26412166 [A case-control study on association between OAS1 polymorphism and susceptibility to spontaneous preterm birth and preterm premature rupture of membranes]. Yang X et al. 2015 Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
26505957 Impact of OAS1 Exon 7 rs10774671 Genetic Variation on Liver Fibrosis Progression in Egyptian HCV Genotype 4 Patients. Bader El Din NG et al. 2015 Viral immunology
26578562 Discover hidden splicing variations by mapping personal transcriptomes to personal genomes. Stein S et al. 2015 Nucleic acids research
26679744 A functional polymorphism in IFNAR1 gene is associated with susceptibility and severity of HFMD with EV71 infection. Zou R et al. 2015 Scientific reports
27135246 Transcriptional Dysregulation of Upstream Signaling of IFN Pathway in Chronic HCV Type 4 Induced Liver Fibrosis. Ibrahim MK et al. 2016 PloS one
27726464 Three Gene Signature for Predicting the Development of Hepatocellular Carcinoma in Chronically Infected Hepatitis C Virus Patients. Ibrahim MK et al. 2016 Journal of interferon & cytokine research
27899133 Adaptively introgressed Neandertal haplotype at the OAS locus functionally impacts innate immune responses in humans. Sams AJ et al. 2016 Genome biology
28640813 Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons. Li H et al. 2017 PLoS genetics
29242559 A functional variant in the OAS1 gene is associated with Sjögren's syndrome complicated with HBV infection. Liu X et al. 2017 Scientific reports
30497421 2'-5'-Oligoadenylate synthetase 1 polymorphisms are associated with tuberculosis: a case-control study. Wu S et al. 2018 BMC pulmonary medicine
31817188 The Cellular Localization of the p42 and p46 Oligoadenylate Synthetase 1 Isoforms and Their Impact on Mitochondrial Respiration. Skrivergaard S et al. 2019 Viruses
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
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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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Software version is: 2.0.1.post565+e32b82c