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 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr12:112919388 (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>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.365343 (110276/301842, ALFA)G=0.407737 (107924/264690, TOPMED)G=0.328328 (81617/248584, GnomAD_exome) (+ 23 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- OAS1 : Splice Acceptor Variant
- Publications
- 44 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 | 317796 | G=0.367726 | A=0.632274, C=0.000000 |
| European | Sub | 266396 | G=0.363237 | A=0.636763, C=0.000000 |
| African | Sub | 13108 | G=0.57423 | A=0.42577, C=0.00000 |
| African Others | Sub | 472 | G=0.625 | A=0.375, C=0.000 |
| African American | Sub | 12636 | G=0.57233 | A=0.42767, C=0.00000 |
| 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 | 23022 | G=0.37525 | A=0.62475, C=0.00000 |
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 |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 301842 | G=0.365343 | A=0.634657, C=0.000000 |
| Allele Frequency Aggregator | European | Sub | 256676 | G=0.364226 | A=0.635774, C=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 21600 | G=0.37468 | A=0.62532, C=0.00000 |
| Allele Frequency Aggregator | African | Sub | 8296 | G=0.5743 | A=0.4257, C=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 6854 | G=0.2524 | A=0.7476, C=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6656 | G=0.2237 | A=0.7763, C=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1394 | G=0.4297 | A=0.5703, C=0.0000 |
| Allele Frequency Aggregator | South Asian | Sub | 366 | G=0.309 | A=0.691, C=0.000 |
| TopMed | Global | Study-wide | 264690 | G=0.407737 | A=0.592263 |
| 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 |
| gnomAD - Genomes | Global | Study-wide | 140050 | G=0.406155 | A=0.593845 |
| gnomAD - Genomes | European | Sub | 75872 | G=0.33447 | A=0.66553 |
| gnomAD - Genomes | African | Sub | 41942 | G=0.57391 | A=0.42609 |
| gnomAD - Genomes | American | Sub | 13634 | G=0.29698 | A=0.70302 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | G=0.5400 | A=0.4600 |
| gnomAD - Genomes | East Asian | Sub | 3126 | G=0.2271 | A=0.7729 |
| gnomAD - Genomes | Other | Sub | 2152 | G=0.4089 | A=0.5911 |
| 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 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.20607 | A=0.79393 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.20931 | A=0.79069 |
| 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_30x | Global | Study-wide | 6404 | G=0.3958 | A=0.6042 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.6517 | A=0.3483 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.3539 | A=0.6461 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.2903 | A=0.7097 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.2556 | A=0.7444 |
| 1000Genomes_30x | American | Sub | 980 | G=0.281 | A=0.719 |
| 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 |
| 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 |
| 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 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 82 | G=0.17 | A=0.83 |
| Siberian | Global | Study-wide | 56 | G=0.21 | A=0.79 |
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.p14 chr 12 | NC_000012.12:g.112919388G>A |
| GRCh38.p14 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_002534.4:c. | N/A | Genic Downstream Transcript Variant |
| OAS1 transcript variant X2 | XM_017019361.3:c. | N/A | Splice Acceptor Variant |
| OAS1 transcript variant X7 | XM_017019362.2:c. | N/A | Splice Acceptor Variant |
| OAS1 transcript variant X1 |
XM_011538413.3:c.1015-99G… XM_011538413.3:c.1015-99G>A |
N/A | Intron Variant |
| OAS1 transcript variant X5 |
XM_047428903.1:c.1014+168… XM_047428903.1:c.1014+1688G>A |
N/A | Intron Variant |
| OAS1 transcript variant X3 | XM_006719434.3:c.*675= | N/A | 3 Prime UTR Variant |
| OAS1 transcript variant X4 | XM_047428902.1:c.*675= | 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 |
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 |
|---|---|---|
| RCV000015021.4 | OAS1 polymorphism | Benign |
Allele: A (allele ID:
1143174
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV001499218.6 | not provided | Benign-Likely-Benign |
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.p14 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 19 | NR_175989.1:n.2827= | NR_175989.1:n.2827G>A | NR_175989.1:n.2827G>C |
| OAS1 transcript variant 9 | NM_001406024.1:c.*1631= | NM_001406024.1:c.*1631G>A | NM_001406024.1:c.*1631G>C |
| OAS1 transcript variant 15 | NR_175985.1:n.2757= | NR_175985.1:n.2757G>A | NR_175985.1:n.2757G>C |
| OAS1 transcript variant 14 | NM_001406030.1:c.*1631= | NM_001406030.1:c.*1631G>A | NM_001406030.1:c.*1631G>C |
| OAS1 transcript variant 23 | NR_175993.1:n.1931= | NR_175993.1:n.1931G>A | NR_175993.1:n.1931G>C |
| OAS1 transcript variant 7 | NM_001406022.1:c.*675= | NM_001406022.1:c.*675G>A | NM_001406022.1:c.*675G>C |
| OAS1 transcript variant 8 | NM_001406023.1:c.*675= | NM_001406023.1:c.*675G>A | NM_001406023.1:c.*675G>C |
| OAS1 transcript variant 18 | NR_175988.1:n.1861= | NR_175988.1:n.1861G>A | NR_175988.1:n.1861G>C |
| OAS1 transcript variant 13 | NM_001406029.1:c.*675= | NM_001406029.1:c.*675G>A | NM_001406029.1:c.*675G>C |
| OAS1 transcript variant X3 | XM_006719434.3:c.*675= | XM_006719434.3:c.*675G>A | XM_006719434.3:c.*675G>C |
| OAS1 transcript variant X4 | XM_047428902.1:c.*675= | XM_047428902.1:c.*675G>A | XM_047428902.1: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_011538413.3:c.1015-99= | XM_011538413.3:c.1015-99G>A | XM_011538413.3:c.1015-99G>C |
| OAS1 transcript variant X5 | XM_047428903.1:c.1014+1688= | XM_047428903.1:c.1014+1688G>A | XM_047428903.1:c.1014+1688G>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#.
160 SubSNP,
26 Frequency,
2 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 | SYSTEMSBIOZJU | ss2628190513 | Nov 08, 2017 (151) |
| 78 | ILLUMINA | ss2633009947 | Nov 08, 2017 (151) |
| 79 | GRF | ss2700126918 | Nov 08, 2017 (151) |
| 80 | GNOMAD | ss2740152005 | Nov 08, 2017 (151) |
| 81 | GNOMAD | ss2748966051 | Nov 08, 2017 (151) |
| 82 | GNOMAD | ss2915329212 | Nov 08, 2017 (151) |
| 83 | AFFY | ss2984991488 | Nov 08, 2017 (151) |
| 84 | AFFY | ss2985627383 | Nov 08, 2017 (151) |
| 85 | SWEGEN | ss3010368556 | Nov 08, 2017 (151) |
| 86 | ILLUMINA | ss3021467525 | Nov 08, 2017 (151) |
| 87 | BIOINF_KMB_FNS_UNIBA | ss3027519069 | Nov 08, 2017 (151) |
| 88 | CSHL | ss3350253915 | Nov 08, 2017 (151) |
| 89 | ILLUMINA | ss3626971547 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3626971548 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3631016270 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3633034620 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3633736146 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3634524340 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3634524341 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3635426607 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3636210149 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3637177615 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3637987679 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3640231673 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3640231674 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3642979262 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3644603244 | Oct 12, 2018 (152) |
| 104 | OMUKHERJEE_ADBS | ss3646447508 | Oct 12, 2018 (152) |
| 105 | URBANLAB | ss3649923750 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3651850552 | Oct 12, 2018 (152) |
| 107 | ILLUMINA | ss3653761393 | Oct 12, 2018 (152) |
| 108 | EGCUT_WGS | ss3677668774 | Jul 13, 2019 (153) |
| 109 | EVA_DECODE | ss3694490252 | Jul 13, 2019 (153) |
| 110 | ILLUMINA | ss3725358548 | Jul 13, 2019 (153) |
| 111 | ACPOP | ss3739391692 | Jul 13, 2019 (153) |
| 112 | ILLUMINA | ss3744401289 | Jul 13, 2019 (153) |
| 113 | ILLUMINA | ss3744825154 | Jul 13, 2019 (153) |
| 114 | ILLUMINA | ss3744825155 | Jul 13, 2019 (153) |
| 115 | EVA | ss3750978868 | Jul 13, 2019 (153) |
| 116 | PAGE_CC | ss3771718246 | Jul 13, 2019 (153) |
| 117 | ILLUMINA | ss3772324355 | Jul 13, 2019 (153) |
| 118 | ILLUMINA | ss3772324356 | Jul 13, 2019 (153) |
| 119 | PACBIO | ss3787338803 | Jul 13, 2019 (153) |
| 120 | PACBIO | ss3792420299 | Jul 13, 2019 (153) |
| 121 | PACBIO | ss3797303382 | Jul 13, 2019 (153) |
| 122 | KHV_HUMAN_GENOMES | ss3816310454 | Jul 13, 2019 (153) |
| 123 | EVA | ss3824773299 | Apr 27, 2020 (154) |
| 124 | EVA | ss3825829326 | Apr 27, 2020 (154) |
| 125 | EVA | ss3833330986 | Apr 27, 2020 (154) |
| 126 | EVA | ss3840237367 | Apr 27, 2020 (154) |
| 127 | EVA | ss3845726026 | Apr 27, 2020 (154) |
| 128 | SGDP_PRJ | ss3879136885 | Apr 27, 2020 (154) |
| 129 | KRGDB | ss3927885559 | Apr 27, 2020 (154) |
| 130 | KOGIC | ss3972754967 | Apr 27, 2020 (154) |
| 131 | FSA-LAB | ss3984037878 | Apr 26, 2021 (155) |
| 132 | EVA | ss3984673392 | Apr 26, 2021 (155) |
| 133 | EVA | ss3985615507 | Apr 26, 2021 (155) |
| 134 | EVA | ss3986061030 | Apr 26, 2021 (155) |
| 135 | EVA | ss3986586948 | Apr 26, 2021 (155) |
| 136 | TOPMED | ss4933232269 | Apr 26, 2021 (155) |
| 137 | TOMMO_GENOMICS | ss5208224449 | Apr 26, 2021 (155) |
| 138 | EVA | ss5236909385 | Apr 26, 2021 (155) |
| 139 | EVA | ss5237222030 | Apr 26, 2021 (155) |
| 140 | EVA | ss5237660892 | Oct 16, 2022 (156) |
| 141 | 1000G_HIGH_COVERAGE | ss5292276650 | Oct 16, 2022 (156) |
| 142 | TRAN_CS_UWATERLOO | ss5314436771 | Oct 16, 2022 (156) |
| 143 | EVA | ss5315649946 | Oct 16, 2022 (156) |
| 144 | EVA | ss5408308314 | Oct 16, 2022 (156) |
| 145 | HUGCELL_USP | ss5486875249 | Oct 16, 2022 (156) |
| 146 | 1000G_HIGH_COVERAGE | ss5590524647 | Oct 16, 2022 (156) |
| 147 | EVA | ss5624036837 | Oct 16, 2022 (156) |
| 148 | SANFORD_IMAGENETICS | ss5653979219 | Oct 16, 2022 (156) |
| 149 | TOMMO_GENOMICS | ss5758567997 | Oct 16, 2022 (156) |
| 150 | EVA | ss5799884256 | Oct 16, 2022 (156) |
| 151 | EVA | ss5800180449 | Oct 16, 2022 (156) |
| 152 | YY_MCH | ss5813654933 | Oct 16, 2022 (156) |
| 153 | EVA | ss5838530459 | Oct 16, 2022 (156) |
| 154 | EVA | ss5847684147 | Oct 16, 2022 (156) |
| 155 | EVA | ss5848363430 | Oct 16, 2022 (156) |
| 156 | EVA | ss5850551388 | Oct 16, 2022 (156) |
| 157 | EVA | ss5906071560 | Oct 16, 2022 (156) |
| 158 | EVA | ss5936554519 | Oct 16, 2022 (156) |
| 159 | EVA | ss5945387719 | Oct 16, 2022 (156) |
| 160 | EVA | ss5981278498 | Oct 16, 2022 (156) |
| 161 | 1000Genomes | NC_000012.11 - 113357193 | Oct 12, 2018 (152) |
| 162 | 1000Genomes_30x | NC_000012.12 - 112919388 | Oct 16, 2022 (156) |
| 163 | The Avon Longitudinal Study of Parents and Children | NC_000012.11 - 113357193 | Oct 12, 2018 (152) |
| 164 | Genetic variation in the Estonian population | NC_000012.11 - 113357193 | Oct 12, 2018 (152) |
| 165 | ExAC | NC_000012.11 - 113357193 | Oct 12, 2018 (152) |
| 166 | FINRISK | NC_000012.11 - 113357193 | Apr 27, 2020 (154) |
| 167 | gnomAD - Genomes | NC_000012.12 - 112919388 | Apr 26, 2021 (155) |
| 168 | gnomAD - Exomes | NC_000012.11 - 113357193 | Jul 13, 2019 (153) |
| 169 | GO Exome Sequencing Project | NC_000012.11 - 113357193 | Oct 12, 2018 (152) |
| 170 | Genome of the Netherlands Release 5 | NC_000012.11 - 113357193 | Apr 27, 2020 (154) |
| 171 | HapMap | NC_000012.12 - 112919388 | Apr 27, 2020 (154) |
| 172 | KOREAN population from KRGDB | NC_000012.11 - 113357193 | Apr 27, 2020 (154) |
| 173 | Korean Genome Project | NC_000012.12 - 112919388 | Apr 27, 2020 (154) |
| 174 | Medical Genome Project healthy controls from Spanish population | NC_000012.11 - 113357193 | Apr 27, 2020 (154) |
| 175 | Northern Sweden | NC_000012.11 - 113357193 | Jul 13, 2019 (153) |
| 176 | The PAGE Study | NC_000012.12 - 112919388 | Jul 13, 2019 (153) |
| 177 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000012.11 - 113357193 | Apr 26, 2021 (155) |
| 178 | CNV burdens in cranial meningiomas | NC_000012.11 - 113357193 | Apr 26, 2021 (155) |
| 179 | Qatari | NC_000012.11 - 113357193 | Apr 27, 2020 (154) |
| 180 | SGDP_PRJ | NC_000012.11 - 113357193 | Apr 27, 2020 (154) |
| 181 | Siberian | NC_000012.11 - 113357193 | Apr 27, 2020 (154) |
| 182 | 8.3KJPN | NC_000012.11 - 113357193 | Apr 26, 2021 (155) |
| 183 | 14KJPN | NC_000012.12 - 112919388 | Oct 16, 2022 (156) |
| 184 | TopMed | NC_000012.12 - 112919388 | Apr 26, 2021 (155) |
| 185 | UK 10K study - Twins | NC_000012.11 - 113357193 | Oct 12, 2018 (152) |
| 186 | ALFA | NC_000012.12 - 112919388 | Apr 26, 2021 (155) |
| 187 | ClinVar | RCV000015021.4 | Oct 16, 2022 (156) |
| 188 | ClinVar | RCV001499218.6 | Oct 16, 2022 (156) |
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, 9390378, 1230722, 14739384, 35062953, 459612, 12676557, 841434, 222888, 15365945, 31153865, 8285175, 66193756, 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, 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, ss3984037878, ss3984673392, ss3985615507, ss3986061030, ss3986586948, ss5208224449, ss5315649946, ss5408308314, ss5624036837, ss5653979219, ss5799884256, ss5800180449, ss5838530459, ss5847684147, ss5848363430, ss5936554519, ss5945387719, ss5981278498 | NC_000012.11:113357192:G:A | NC_000012.12:112919387:G:A | (self) |
| RCV001499218.6, 78050582, 419724897, 906694, 29132968, 939715, 92405101, 148777926, 5947348780, ss2193296645, ss3027519069, ss3649923750, ss3694490252, ss3725358548, ss3771718246, ss3816310454, ss3845726026, ss3972754967, ss4933232269, ss5236909385, ss5237222030, ss5237660892, ss5292276650, ss5314436771, ss5486875249, ss5590524647, ss5758567997, ss5813654933, ss5850551388, ss5906071560 | 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 | (self) |
| 5947348780 | 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.
44
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 |
| 30770922 | Genetics and epigenetics in primary Sjögren's syndrome. | Imgenberg-Kreuz J et al. | 2021 | Rheumatology (Oxford, England) |
| 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 |
| 34169444 | Pharmacogenetic Predictors of Response to Interferon Beta Therapy in Multiple Sclerosis. | Carrasco-Campos MI et al. | 2021 | Molecular neurobiology |
| 34282422 | Genetic regulation of OAS1 nonsense-mediated decay underlies association with risk of severe COVID-19. | Banday AR et al. | 2021 | medRxiv |
| 34282934 | Association between Human Genetic Variants and the Vaginal Bacteriome of Pregnant Women. | Fan W et al. | 2021 | mSystems |
| 34336138 | Prevalence of the SNP rs10774671 of the OAS1 gene in Mexico as a possible predisposing factor for RNA virus disease. | Sánchez-González MT et al. | 2021 | International journal of molecular epidemiology and genetics |
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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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.
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.