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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.

rs1131454

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:112911065 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.472103 (124961/264690, TOPMED)
G=0.430539 (107764/250300, GnomAD_exome)
G=0.441988 (109940/248740, ALFA) (+ 23 more)
A=0.478738 (66940/139826, GnomAD)
G=0.437217 (52996/121212, ExAC)
A=0.44953 (35376/78696, PAGE_STUDY)
G=0.39016 (11025/28258, 14KJPN)
G=0.38968 (6531/16760, 8.3KJPN)
A=0.4688 (3002/6404, 1000G_30x)
A=0.4738 (2373/5008, 1000G)
G=0.3366 (1508/4480, Estonian)
G=0.4118 (1587/3854, ALSPAC)
G=0.4194 (1555/3708, TWINSUK)
G=0.4102 (1202/2930, KOREAN)
G=0.4731 (986/2084, HGDP_Stanford)
G=0.396 (395/998, GoNL)
G=0.472 (374/792, PRJEB37584)
G=0.352 (211/600, NorthernSweden)
G=0.440 (235/534, MGP)
G=0.482 (257/533, Vietnamese)
G=0.298 (124/416, SGDP_PRJ)
G=0.355 (108/304, FINRISK)
A=0.440 (95/216, Qatari)
G=0.39 (38/98, Ancient Sardinia)
G=0.26 (14/54, Siberian)
G=0.35 (14/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
OAS1 : Missense Variant
Publications
25 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 265052 G=0.447259 A=0.552741, C=0.000000
European Sub 219354 G=0.434029 A=0.565971, C=0.000000
African Sub 10170 G=0.77129 A=0.22871, C=0.00000
African Others Sub 392 G=0.834 A=0.166, C=0.000
African American Sub 9778 G=0.7688 A=0.2312, C=0.0000
Asian Sub 6630 G=0.4264 A=0.5736, C=0.0000
East Asian Sub 4742 G=0.4201 A=0.5799, C=0.0000
Other Asian Sub 1888 G=0.4423 A=0.5577, C=0.0000
Latin American 1 Sub 1012 G=0.5553 A=0.4447, C=0.0000
Latin American 2 Sub 5848 G=0.3015 A=0.6985, C=0.0000
South Asian Sub 346 G=0.439 A=0.561, C=0.000
Other Sub 21692 G=0.46990 A=0.53010, 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
TopMed Global Study-wide 264690 G=0.527897 A=0.472103
gnomAD - Exomes Global Study-wide 250300 G=0.430539 A=0.569461
gnomAD - Exomes European Sub 134850 G=0.413037 A=0.586963
gnomAD - Exomes Asian Sub 48842 G=0.41184 A=0.58816
gnomAD - Exomes American Sub 34234 G=0.30125 A=0.69875
gnomAD - Exomes African Sub 16246 G=0.78192 A=0.21808
gnomAD - Exomes Ashkenazi Jewish Sub 10046 G=0.61846 A=0.38154
gnomAD - Exomes Other Sub 6082 G=0.4476 A=0.5524
Allele Frequency Aggregator Total Global 248740 G=0.441988 A=0.558012, C=0.000000
Allele Frequency Aggregator European Sub 209326 G=0.434858 A=0.565142, C=0.000000
Allele Frequency Aggregator Other Sub 20244 G=0.46913 A=0.53087, C=0.00000
Allele Frequency Aggregator Asian Sub 6630 G=0.4264 A=0.5736, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 5848 G=0.3015 A=0.6985, C=0.0000
Allele Frequency Aggregator African Sub 5334 G=0.7709 A=0.2291, C=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1012 G=0.5553 A=0.4447, C=0.0000
Allele Frequency Aggregator South Asian Sub 346 G=0.439 A=0.561, C=0.000
gnomAD - Genomes Global Study-wide 139826 G=0.521262 A=0.478738
gnomAD - Genomes European Sub 75762 G=0.41052 A=0.58948
gnomAD - Genomes African Sub 41864 G=0.76806 A=0.23194
gnomAD - Genomes American Sub 13622 G=0.38856 A=0.61144
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.6153 A=0.3847
gnomAD - Genomes East Asian Sub 3110 G=0.3836 A=0.6164
gnomAD - Genomes Other Sub 2146 G=0.5126 A=0.4874
ExAC Global Study-wide 121212 G=0.437217 A=0.562783
ExAC Europe Sub 73226 G=0.42001 A=0.57999
ExAC Asian Sub 25122 G=0.41350 A=0.58650
ExAC American Sub 11562 G=0.29675 A=0.70325
ExAC African Sub 10394 G=0.77141 A=0.22859
ExAC Other Sub 908 G=0.444 A=0.556
The PAGE Study Global Study-wide 78696 G=0.55047 A=0.44953
The PAGE Study AfricanAmerican Sub 32514 G=0.76472 A=0.23528
The PAGE Study Mexican Sub 10808 G=0.31319 A=0.68681
The PAGE Study Asian Sub 8318 G=0.3880 A=0.6120
The PAGE Study PuertoRican Sub 7918 G=0.4824 A=0.5176
The PAGE Study NativeHawaiian Sub 4532 G=0.3226 A=0.6774
The PAGE Study Cuban Sub 4230 G=0.4667 A=0.5333
The PAGE Study Dominican Sub 3828 G=0.5862 A=0.4138
The PAGE Study CentralAmerican Sub 2450 G=0.3359 A=0.6641
The PAGE Study SouthAmerican Sub 1982 G=0.3047 A=0.6953
The PAGE Study NativeAmerican Sub 1260 G=0.4333 A=0.5667
The PAGE Study SouthAsian Sub 856 G=0.433 A=0.567
14KJPN JAPANESE Study-wide 28258 G=0.39016 A=0.60984
8.3KJPN JAPANESE Study-wide 16760 G=0.38968 A=0.61032
1000Genomes_30x Global Study-wide 6404 G=0.5312 A=0.4688
1000Genomes_30x African Sub 1786 G=0.8539 A=0.1461
1000Genomes_30x Europe Sub 1266 G=0.4250 A=0.5750
1000Genomes_30x South Asian Sub 1202 G=0.4143 A=0.5857
1000Genomes_30x East Asian Sub 1170 G=0.4068 A=0.5932
1000Genomes_30x American Sub 980 G=0.372 A=0.628
1000Genomes Global Study-wide 5008 G=0.5262 A=0.4738
1000Genomes African Sub 1322 G=0.8510 A=0.1490
1000Genomes East Asian Sub 1008 G=0.4087 A=0.5913
1000Genomes Europe Sub 1006 G=0.4254 A=0.5746
1000Genomes South Asian Sub 978 G=0.420 A=0.580
1000Genomes American Sub 694 G=0.373 A=0.627
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3366 A=0.6634
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4118 A=0.5882
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4194 A=0.5806
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.4102 A=0.5898, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.4731 A=0.5269
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.419 A=0.581
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.476 A=0.524
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.631 A=0.369
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.406 A=0.594
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.806 A=0.194
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.019 A=0.981
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.58 A=0.42
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.396 A=0.604
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.472 A=0.528
CNV burdens in cranial meningiomas CRM Sub 792 G=0.472 A=0.528
Northern Sweden ACPOP Study-wide 600 G=0.352 A=0.648
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.440 A=0.560
A Vietnamese Genetic Variation Database Global Study-wide 533 G=0.482 A=0.518
SGDP_PRJ Global Study-wide 416 G=0.298 A=0.702
FINRISK Finnish from FINRISK project Study-wide 304 G=0.355 A=0.645
Qatari Global Study-wide 216 G=0.560 A=0.440
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 98 G=0.39 A=0.61
Siberian Global Study-wide 54 G=0.26 A=0.74
The Danish reference pan genome Danish Study-wide 40 G=0.35 A=0.65
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.112911065G>A
GRCh38.p14 chr 12 NC_000012.12:g.112911065G>C
GRCh38.p14 chr 12 NC_000012.12:g.112911065G>T
GRCh37.p13 chr 12 NC_000012.11:g.113348870G>A
GRCh37.p13 chr 12 NC_000012.11:g.113348870G>C
GRCh37.p13 chr 12 NC_000012.11:g.113348870G>T
OAS1 RefSeqGene NG_011530.2:g.9132G>A
OAS1 RefSeqGene NG_011530.2:g.9132G>C
OAS1 RefSeqGene NG_011530.2:g.9132G>T
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.484G>A G [GGC] > S [AGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 1 NP_058132.2:p.Gly162Ser G (Gly) > S (Ser) Missense Variant
OAS1 transcript variant 1 NM_016816.4:c.484G>C G [GGC] > R [CGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 1 NP_058132.2:p.Gly162Arg G (Gly) > R (Arg) Missense Variant
OAS1 transcript variant 1 NM_016816.4:c.484G>T G [GGC] > C [TGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 1 NP_058132.2:p.Gly162Cys G (Gly) > C (Cys) Missense Variant
OAS1 transcript variant 4 NM_001320151.2:c.484G>A G [GGC] > S [AGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 4 NP_001307080.1:p.Gly162Ser G (Gly) > S (Ser) Missense Variant
OAS1 transcript variant 4 NM_001320151.2:c.484G>C G [GGC] > R [CGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 4 NP_001307080.1:p.Gly162Arg G (Gly) > R (Arg) Missense Variant
OAS1 transcript variant 4 NM_001320151.2:c.484G>T G [GGC] > C [TGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 4 NP_001307080.1:p.Gly162Cys G (Gly) > C (Cys) Missense Variant
OAS1 transcript variant 3 NM_001032409.3:c.484G>A G [GGC] > S [AGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 3 NP_001027581.1:p.Gly162Ser G (Gly) > S (Ser) Missense Variant
OAS1 transcript variant 3 NM_001032409.3:c.484G>C G [GGC] > R [CGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 3 NP_001027581.1:p.Gly162Arg G (Gly) > R (Arg) Missense Variant
OAS1 transcript variant 3 NM_001032409.3:c.484G>T G [GGC] > C [TGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 3 NP_001027581.1:p.Gly162Cys G (Gly) > C (Cys) Missense Variant
OAS1 transcript variant 2 NM_002534.4:c.484G>A G [GGC] > S [AGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 2 NP_002525.2:p.Gly162Ser G (Gly) > S (Ser) Missense Variant
OAS1 transcript variant 2 NM_002534.4:c.484G>C G [GGC] > R [CGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 2 NP_002525.2:p.Gly162Arg G (Gly) > R (Arg) Missense Variant
OAS1 transcript variant 2 NM_002534.4:c.484G>T G [GGC] > C [TGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform 2 NP_002525.2:p.Gly162Cys G (Gly) > C (Cys) Missense Variant
OAS1 transcript variant X1 XM_011538413.3:c.470-33G>A N/A Intron Variant
OAS1 transcript variant X2 XM_017019361.3:c.470-33G>A N/A Intron Variant
OAS1 transcript variant X7 XM_017019362.2:c.28-33G>A N/A Intron Variant
OAS1 transcript variant X4 XM_047428902.1:c.470-33G>A N/A Intron Variant
OAS1 transcript variant X5 XM_047428903.1:c.470-33G>A N/A Intron Variant
OAS1 transcript variant X8 XM_047428905.1:c.470-33G>A N/A Intron Variant
OAS1 transcript variant X3 XM_006719434.3:c.484G>A G [GGC] > S [AGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform X3 XP_006719497.1:p.Gly162Ser G (Gly) > S (Ser) Missense Variant
OAS1 transcript variant X3 XM_006719434.3:c.484G>C G [GGC] > R [CGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform X3 XP_006719497.1:p.Gly162Arg G (Gly) > R (Arg) Missense Variant
OAS1 transcript variant X3 XM_006719434.3:c.484G>T G [GGC] > C [TGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform X3 XP_006719497.1:p.Gly162Cys G (Gly) > C (Cys) Missense Variant
OAS1 transcript variant X6 XM_047428904.1:c.484G>A G [GGC] > S [AGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform X6 XP_047284860.1:p.Gly162Ser G (Gly) > S (Ser) Missense Variant
OAS1 transcript variant X6 XM_047428904.1:c.484G>C G [GGC] > R [CGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform X6 XP_047284860.1:p.Gly162Arg G (Gly) > R (Arg) Missense Variant
OAS1 transcript variant X6 XM_047428904.1:c.484G>T G [GGC] > C [TGC] Coding Sequence Variant
2'-5'-oligoadenylate synthase 1 isoform X6 XP_047284860.1:p.Gly162Cys G (Gly) > C (Cys) Missense 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: A (allele ID: 29024 )
ClinVar Accession Disease Names Clinical Significance
RCV000015022.3 OAS1 polymorphism Uncertain-Significance
RCV001513965.5 not provided 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 T
GRCh38.p14 chr 12 NC_000012.12:g.112911065= NC_000012.12:g.112911065G>A NC_000012.12:g.112911065G>C NC_000012.12:g.112911065G>T
GRCh37.p13 chr 12 NC_000012.11:g.113348870= NC_000012.11:g.113348870G>A NC_000012.11:g.113348870G>C NC_000012.11:g.113348870G>T
OAS1 RefSeqGene NG_011530.2:g.9132= NG_011530.2:g.9132G>A NG_011530.2:g.9132G>C NG_011530.2:g.9132G>T
OAS1 transcript variant 1 NM_016816.4:c.484= NM_016816.4:c.484G>A NM_016816.4:c.484G>C NM_016816.4:c.484G>T
OAS1 transcript variant 1 NM_016816.3:c.484= NM_016816.3:c.484G>A NM_016816.3:c.484G>C NM_016816.3:c.484G>T
OAS1 transcript variant 1 NM_016816.2:c.484= NM_016816.2:c.484G>A NM_016816.2:c.484G>C NM_016816.2:c.484G>T
OAS1 transcript variant 2 NM_002534.4:c.484= NM_002534.4:c.484G>A NM_002534.4:c.484G>C NM_002534.4:c.484G>T
OAS1 transcript variant 2 NM_002534.3:c.484= NM_002534.3:c.484G>A NM_002534.3:c.484G>C NM_002534.3:c.484G>T
OAS1 transcript variant 2 NM_002534.2:c.484= NM_002534.2:c.484G>A NM_002534.2:c.484G>C NM_002534.2:c.484G>T
OAS1 transcript variant 3 NM_001032409.3:c.484= NM_001032409.3:c.484G>A NM_001032409.3:c.484G>C NM_001032409.3:c.484G>T
OAS1 transcript variant 3 NM_001032409.2:c.484= NM_001032409.2:c.484G>A NM_001032409.2:c.484G>C NM_001032409.2:c.484G>T
OAS1 transcript variant 3 NM_001032409.1:c.484= NM_001032409.1:c.484G>A NM_001032409.1:c.484G>C NM_001032409.1:c.484G>T
OAS1 transcript variant 4 NM_001320151.2:c.484= NM_001320151.2:c.484G>A NM_001320151.2:c.484G>C NM_001320151.2:c.484G>T
OAS1 transcript variant 4 NM_001320151.1:c.484= NM_001320151.1:c.484G>A NM_001320151.1:c.484G>C NM_001320151.1:c.484G>T
OAS1 transcript variant 19 NR_175989.1:n.562= NR_175989.1:n.562G>A NR_175989.1:n.562G>C NR_175989.1:n.562G>T
OAS1 transcript variant 21 NR_175991.1:n.562= NR_175991.1:n.562G>A NR_175991.1:n.562G>C NR_175991.1:n.562G>T
OAS1 transcript variant 23 NR_175993.1:n.562= NR_175993.1:n.562G>A NR_175993.1:n.562G>C NR_175993.1:n.562G>T
OAS1 transcript variant 7 NM_001406022.1:c.484= NM_001406022.1:c.484G>A NM_001406022.1:c.484G>C NM_001406022.1:c.484G>T
OAS1 transcript variant 22 NR_175992.1:n.562= NR_175992.1:n.562G>A NR_175992.1:n.562G>C NR_175992.1:n.562G>T
OAS1 transcript variant 20 NR_175990.1:n.562= NR_175990.1:n.562G>A NR_175990.1:n.562G>C NR_175990.1:n.562G>T
OAS1 transcript variant X3 XM_006719434.3:c.484= XM_006719434.3:c.484G>A XM_006719434.3:c.484G>C XM_006719434.3:c.484G>T
OAS1 transcript variant X6 XM_047428904.1:c.484= XM_047428904.1:c.484G>A XM_047428904.1:c.484G>C XM_047428904.1:c.484G>T
2'-5'-oligoadenylate synthase 1 isoform 1 NP_058132.2:p.Gly162= NP_058132.2:p.Gly162Ser NP_058132.2:p.Gly162Arg NP_058132.2:p.Gly162Cys
2'-5'-oligoadenylate synthase 1 isoform 2 NP_002525.2:p.Gly162= NP_002525.2:p.Gly162Ser NP_002525.2:p.Gly162Arg NP_002525.2:p.Gly162Cys
2'-5'-oligoadenylate synthase 1 isoform 3 NP_001027581.1:p.Gly162= NP_001027581.1:p.Gly162Ser NP_001027581.1:p.Gly162Arg NP_001027581.1:p.Gly162Cys
2'-5'-oligoadenylate synthase 1 isoform 4 NP_001307080.1:p.Gly162= NP_001307080.1:p.Gly162Ser NP_001307080.1:p.Gly162Arg NP_001307080.1:p.Gly162Cys
2'-5'-oligoadenylate synthase 1 isoform X3 XP_006719497.1:p.Gly162= XP_006719497.1:p.Gly162Ser XP_006719497.1:p.Gly162Arg XP_006719497.1:p.Gly162Cys
2'-5'-oligoadenylate synthase 1 isoform X6 XP_047284860.1:p.Gly162= XP_047284860.1:p.Gly162Ser XP_047284860.1:p.Gly162Arg XP_047284860.1:p.Gly162Cys
OAS1 transcript variant X1 XM_011538413.3:c.470-33= XM_011538413.3:c.470-33G>A XM_011538413.3:c.470-33G>C XM_011538413.3:c.470-33G>T
OAS1 transcript variant X2 XM_017019361.3:c.470-33= XM_017019361.3:c.470-33G>A XM_017019361.3:c.470-33G>C XM_017019361.3:c.470-33G>T
OAS1 transcript variant X7 XM_017019362.2:c.28-33= XM_017019362.2:c.28-33G>A XM_017019362.2:c.28-33G>C XM_017019362.2:c.28-33G>T
OAS1 transcript variant X4 XM_047428902.1:c.470-33= XM_047428902.1:c.470-33G>A XM_047428902.1:c.470-33G>C XM_047428902.1:c.470-33G>T
OAS1 transcript variant X5 XM_047428903.1:c.470-33= XM_047428903.1:c.470-33G>A XM_047428903.1:c.470-33G>C XM_047428903.1:c.470-33G>T
OAS1 transcript variant X8 XM_047428905.1:c.470-33= XM_047428905.1:c.470-33G>A XM_047428905.1:c.470-33G>C XM_047428905.1:c.470-33G>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#.

176 SubSNP, 26 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 AFFX ss2982326 Jun 15, 2001 (102)
2 YUSUKE ss4927987 Aug 28, 2002 (130)
3 SC_SNP ss15929355 Feb 27, 2004 (130)
4 SSAHASNP ss20882594 Apr 05, 2004 (130)
5 PERLEGEN ss24415187 Sep 20, 2004 (130)
6 ABI ss38958181 Mar 13, 2006 (130)
7 SNP500CANCER ss48296075 Mar 13, 2006 (130)
8 ILLUMINA ss66648692 Dec 01, 2006 (130)
9 ILLUMINA ss67298525 Dec 01, 2006 (130)
10 ILLUMINA ss67703112 Dec 01, 2006 (130)
11 PERLEGEN ss69120825 May 17, 2007 (130)
12 ILLUMINA ss70777155 May 24, 2008 (130)
13 ILLUMINA ss71353281 May 17, 2007 (130)
14 AFFY ss74809213 Aug 16, 2007 (130)
15 ILLUMINA ss75496137 Dec 07, 2007 (129)
16 AFFY ss76443479 Dec 08, 2007 (130)
17 CGM_KYOTO ss76868619 Dec 07, 2007 (129)
18 ILLUMINA ss79163977 Dec 14, 2007 (130)
19 HGSV ss83944660 Dec 14, 2007 (130)
20 KRIBB_YJKIM ss84163588 Dec 14, 2007 (130)
21 BCMHGSC_JDW ss89390648 Mar 24, 2008 (129)
22 HUMANGENOME_JCVI ss97254427 Feb 04, 2009 (130)
23 BGI ss103083245 Feb 13, 2009 (130)
24 1000GENOMES ss112446190 Feb 14, 2009 (130)
25 ILLUMINA ss122203654 Dec 01, 2009 (131)
26 ENSEMBL ss132064228 Dec 01, 2009 (131)
27 ENSEMBL ss133365670 Dec 01, 2009 (131)
28 ILLUMINA ss154264317 Dec 01, 2009 (131)
29 GMI ss157918992 Dec 01, 2009 (131)
30 ILLUMINA ss159441160 Dec 01, 2009 (131)
31 SEATTLESEQ ss159727288 Dec 01, 2009 (131)
32 ILLUMINA ss160634350 Dec 01, 2009 (131)
33 COMPLETE_GENOMICS ss168721556 Jul 04, 2010 (132)
34 ILLUMINA ss171619367 Jul 04, 2010 (132)
35 ILLUMINA ss173618373 Jul 04, 2010 (132)
36 BUSHMAN ss198703403 Jul 04, 2010 (132)
37 BCM-HGSC-SUB ss208011103 Jul 04, 2010 (132)
38 1000GENOMES ss225966575 Jul 14, 2010 (132)
39 1000GENOMES ss236091860 Jul 15, 2010 (132)
40 1000GENOMES ss242618469 Jul 15, 2010 (132)
41 BL ss255348856 May 09, 2011 (134)
42 OMIM-CURATED-RECORDS ss275515633 Nov 24, 2010 (133)
43 GMI ss281551189 May 04, 2012 (137)
44 GMI ss286628487 Apr 25, 2013 (138)
45 PJP ss291342119 May 09, 2011 (134)
46 NHLBI-ESP ss342367778 May 09, 2011 (134)
47 ILLUMINA ss480808812 May 04, 2012 (137)
48 ILLUMINA ss480824518 May 04, 2012 (137)
49 ILLUMINA ss481752242 Sep 08, 2015 (146)
50 ILLUMINA ss485199229 May 04, 2012 (137)
51 1000GENOMES ss491051889 May 04, 2012 (137)
52 EXOME_CHIP ss491473970 May 04, 2012 (137)
53 CLINSEQ_SNP ss491672864 May 04, 2012 (137)
54 ILLUMINA ss537186548 Sep 08, 2015 (146)
55 TISHKOFF ss563411685 Apr 25, 2013 (138)
56 SSMP ss658994668 Apr 25, 2013 (138)
57 ILLUMINA ss778703876 Sep 08, 2015 (146)
58 ILLUMINA ss780692905 Sep 08, 2015 (146)
59 ILLUMINA ss783045619 Sep 08, 2015 (146)
60 ILLUMINA ss783366738 Sep 08, 2015 (146)
61 ILLUMINA ss784004560 Sep 08, 2015 (146)
62 ILLUMINA ss825494495 Apr 01, 2015 (144)
63 ILLUMINA ss832303398 Sep 08, 2015 (146)
64 ILLUMINA ss832952734 Jul 13, 2019 (153)
65 ILLUMINA ss834162913 Sep 08, 2015 (146)
66 EVA-GONL ss989971142 Aug 21, 2014 (142)
67 JMKIDD_LAB ss1067537842 Aug 21, 2014 (142)
68 JMKIDD_LAB ss1078778382 Aug 21, 2014 (142)
69 1000GENOMES ss1346687367 Aug 21, 2014 (142)
70 DDI ss1427057320 Apr 01, 2015 (144)
71 EVA_GENOME_DK ss1576531127 Apr 01, 2015 (144)
72 EVA_FINRISK ss1584084633 Apr 01, 2015 (144)
73 EVA_UK10K_ALSPAC ss1629472834 Apr 01, 2015 (144)
74 EVA_DECODE ss1642077586 Apr 01, 2015 (144)
75 EVA_UK10K_TWINSUK ss1672466867 Apr 01, 2015 (144)
76 EVA_EXAC ss1691119904 Apr 01, 2015 (144)
77 EVA_MGP ss1711343844 Apr 01, 2015 (144)
78 EVA_SVP ss1713358884 Apr 01, 2015 (144)
79 ILLUMINA ss1752047033 Sep 08, 2015 (146)
80 ILLUMINA ss1752047034 Sep 08, 2015 (146)
81 ILLUMINA ss1917879070 Feb 12, 2016 (147)
82 WEILL_CORNELL_DGM ss1933323974 Feb 12, 2016 (147)
83 ILLUMINA ss1946350229 Feb 12, 2016 (147)
84 ILLUMINA ss1959467165 Feb 12, 2016 (147)
85 GENOMED ss1967683691 Jul 19, 2016 (147)
86 JJLAB ss2027418808 Sep 14, 2016 (149)
87 USC_VALOUEV ss2155768807 Dec 20, 2016 (150)
88 HUMAN_LONGEVITY ss2193296190 Dec 20, 2016 (150)
89 SYSTEMSBIOZJU ss2628190507 Nov 08, 2017 (151)
90 ILLUMINA ss2633009943 Nov 08, 2017 (151)
91 GRF ss2700126900 Nov 08, 2017 (151)
92 GNOMAD ss2740151717 Nov 08, 2017 (151)
93 GNOMAD ss2748965956 Nov 08, 2017 (151)
94 GNOMAD ss2915328629 Nov 08, 2017 (151)
95 AFFY ss2984991474 Nov 08, 2017 (151)
96 SWEGEN ss3010368481 Nov 08, 2017 (151)
97 ILLUMINA ss3021467509 Nov 08, 2017 (151)
98 EVA_SAMSUNG_MC ss3023068029 Nov 08, 2017 (151)
99 BIOINF_KMB_FNS_UNIBA ss3027519061 Nov 08, 2017 (151)
100 CSHL ss3350253903 Nov 08, 2017 (151)
101 ILLUMINA ss3626971527 Oct 12, 2018 (152)
102 ILLUMINA ss3626971528 Oct 12, 2018 (152)
103 ILLUMINA ss3631016266 Oct 12, 2018 (152)
104 ILLUMINA ss3633034619 Oct 12, 2018 (152)
105 ILLUMINA ss3633736145 Oct 12, 2018 (152)
106 ILLUMINA ss3634524330 Oct 12, 2018 (152)
107 ILLUMINA ss3634524331 Oct 12, 2018 (152)
108 ILLUMINA ss3635426606 Oct 12, 2018 (152)
109 ILLUMINA ss3636210148 Oct 12, 2018 (152)
110 ILLUMINA ss3637177614 Oct 12, 2018 (152)
111 ILLUMINA ss3637987678 Oct 12, 2018 (152)
112 ILLUMINA ss3639006694 Oct 12, 2018 (152)
113 ILLUMINA ss3639506261 Oct 12, 2018 (152)
114 ILLUMINA ss3640231663 Oct 12, 2018 (152)
115 ILLUMINA ss3640231664 Oct 12, 2018 (152)
116 ILLUMINA ss3642979261 Oct 12, 2018 (152)
117 ILLUMINA ss3644603232 Oct 12, 2018 (152)
118 OMUKHERJEE_ADBS ss3646447506 Oct 12, 2018 (152)
119 URBANLAB ss3649923744 Oct 12, 2018 (152)
120 ILLUMINA ss3651850536 Oct 12, 2018 (152)
121 ILLUMINA ss3653761379 Oct 12, 2018 (152)
122 EGCUT_WGS ss3677668687 Jul 13, 2019 (153)
123 EVA_DECODE ss3694490165 Jul 13, 2019 (153)
124 ACPOP ss3739391654 Jul 13, 2019 (153)
125 ILLUMINA ss3744401280 Jul 13, 2019 (153)
126 ILLUMINA ss3744825144 Jul 13, 2019 (153)
127 ILLUMINA ss3744825145 Jul 13, 2019 (153)
128 EVA ss3750978815 Jul 13, 2019 (153)
129 PAGE_CC ss3771718232 Jul 13, 2019 (153)
130 ILLUMINA ss3772324345 Jul 13, 2019 (153)
131 ILLUMINA ss3772324346 Jul 13, 2019 (153)
132 PACBIO ss3787338793 Jul 13, 2019 (153)
133 PACBIO ss3792420293 Jul 13, 2019 (153)
134 PACBIO ss3797303375 Jul 13, 2019 (153)
135 KHV_HUMAN_GENOMES ss3816310409 Jul 13, 2019 (153)
136 EVA ss3824773257 Apr 27, 2020 (154)
137 EVA ss3825528859 Apr 27, 2020 (154)
138 EVA ss3825544041 Apr 27, 2020 (154)
139 EVA ss3825829321 Apr 27, 2020 (154)
140 EVA ss3833330975 Apr 27, 2020 (154)
141 EVA ss3840237361 Apr 27, 2020 (154)
142 EVA ss3845726020 Apr 27, 2020 (154)
143 HGDP ss3847464448 Apr 27, 2020 (154)
144 SGDP_PRJ ss3879136788 Apr 27, 2020 (154)
145 KRGDB ss3927885456 Apr 27, 2020 (154)
146 FSA-LAB ss3984037873 Apr 26, 2021 (155)
147 EVA ss3984673390 Apr 26, 2021 (155)
148 EVA ss3985615501 Apr 26, 2021 (155)
149 EVA ss3986061029 Apr 26, 2021 (155)
150 EVA ss3986586936 Apr 26, 2021 (155)
151 TOPMED ss4933230317 Apr 26, 2021 (155)
152 TOMMO_GENOMICS ss5208224202 Apr 26, 2021 (155)
153 EVA ss5236909381 Apr 26, 2021 (155)
154 EVA ss5237222029 Apr 26, 2021 (155)
155 EVA ss5237660891 Oct 16, 2022 (156)
156 1000G_HIGH_COVERAGE ss5292276477 Oct 16, 2022 (156)
157 TRAN_CS_UWATERLOO ss5314436767 Oct 16, 2022 (156)
158 EVA ss5315649942 Oct 16, 2022 (156)
159 EVA ss5408307980 Oct 16, 2022 (156)
160 HUGCELL_USP ss5486875114 Oct 16, 2022 (156)
161 1000G_HIGH_COVERAGE ss5590524392 Oct 16, 2022 (156)
162 EVA ss5624036836 Oct 16, 2022 (156)
163 SANFORD_IMAGENETICS ss5653979139 Oct 16, 2022 (156)
164 TOMMO_GENOMICS ss5758567683 Oct 16, 2022 (156)
165 EVA ss5799448972 Oct 16, 2022 (156)
166 EVA ss5799884255 Oct 16, 2022 (156)
167 EVA ss5800180447 Oct 16, 2022 (156)
168 YY_MCH ss5813654898 Oct 16, 2022 (156)
169 EVA ss5838530401 Oct 16, 2022 (156)
170 EVA ss5847684136 Oct 16, 2022 (156)
171 EVA ss5848363427 Oct 16, 2022 (156)
172 EVA ss5850551378 Oct 16, 2022 (156)
173 EVA ss5906071351 Oct 16, 2022 (156)
174 EVA ss5936554518 Oct 16, 2022 (156)
175 EVA ss5945387639 Oct 16, 2022 (156)
176 EVA ss5981278497 Oct 16, 2022 (156)
177 1000Genomes NC_000012.11 - 113348870 Oct 12, 2018 (152)
178 1000Genomes_30x NC_000012.12 - 112911065 Oct 16, 2022 (156)
179 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 113348870 Oct 12, 2018 (152)
180 Genetic variation in the Estonian population NC_000012.11 - 113348870 Oct 12, 2018 (152)
181 ExAC NC_000012.11 - 113348870 Oct 12, 2018 (152)
182 FINRISK NC_000012.11 - 113348870 Apr 27, 2020 (154)
183 The Danish reference pan genome NC_000012.11 - 113348870 Apr 27, 2020 (154)
184 gnomAD - Genomes NC_000012.12 - 112911065 Apr 26, 2021 (155)
185 gnomAD - Exomes NC_000012.11 - 113348870 Jul 13, 2019 (153)
186 Genome of the Netherlands Release 5 NC_000012.11 - 113348870 Apr 27, 2020 (154)
187 HGDP-CEPH-db Supplement 1 NC_000012.10 - 111833253 Apr 27, 2020 (154)
188 KOREAN population from KRGDB NC_000012.11 - 113348870 Apr 27, 2020 (154)
189 Medical Genome Project healthy controls from Spanish population NC_000012.11 - 113348870 Apr 27, 2020 (154)
190 Northern Sweden NC_000012.11 - 113348870 Jul 13, 2019 (153)
191 The PAGE Study NC_000012.12 - 112911065 Jul 13, 2019 (153)
192 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 113348870 Apr 26, 2021 (155)
193 CNV burdens in cranial meningiomas NC_000012.11 - 113348870 Apr 26, 2021 (155)
194 Qatari NC_000012.11 - 113348870 Apr 27, 2020 (154)
195 SGDP_PRJ NC_000012.11 - 113348870 Apr 27, 2020 (154)
196 Siberian NC_000012.11 - 113348870 Apr 27, 2020 (154)
197 8.3KJPN NC_000012.11 - 113348870 Apr 26, 2021 (155)
198 14KJPN NC_000012.12 - 112911065 Oct 16, 2022 (156)
199 TopMed NC_000012.12 - 112911065 Apr 26, 2021 (155)
200 UK 10K study - Twins NC_000012.11 - 113348870 Oct 12, 2018 (152)
201 A Vietnamese Genetic Variation Database NC_000012.11 - 113348870 Jul 13, 2019 (153)
202 ALFA NC_000012.12 - 112911065 Apr 26, 2021 (155)
203 ClinVar RCV000015022.3 Oct 12, 2018 (152)
204 ClinVar RCV001513965.5 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)
rs2070164 Jan 04, 2002 (102)
rs3191365 Oct 09, 2002 (108)
rs3741981 May 24, 2008 (130)
rs11543293 May 24, 2008 (130)
rs17413811 May 24, 2008 (130)
rs17834195 Oct 08, 2004 (123)
rs52812159 Sep 21, 2007 (128)
rs56435707 May 24, 2008 (130)
rs57921148 May 24, 2008 (130)
rs117434543 Aug 16, 2010 (132)
rs386585242 Aug 06, 2014 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83944660, ss3639006694, ss3639506261 NC_000012.9:111811589:G:A NC_000012.12:112911064:G:A (self)
142340, ss89390648, ss112446190, ss168721556, ss208011103, ss255348856, ss281551189, ss286628487, ss291342119, ss480808812, ss491672864, ss825494495, ss1642077586, ss1713358884, ss3642979261, ss3847464448 NC_000012.10:111833252:G:A NC_000012.12:112911064:G:A (self)
59499884, 33046163, 23406935, 1435101, 81094, 3131075, 9390079, 14739343, 35062850, 459604, 12676519, 841428, 222886, 15365904, 31153768, 8285161, 66193509, 33046163, 7331172, ss225966575, ss236091860, ss242618469, ss342367778, ss480824518, ss481752242, ss485199229, ss491051889, ss491473970, ss537186548, ss563411685, ss658994668, ss778703876, ss780692905, ss783045619, ss783366738, ss784004560, ss832303398, ss832952734, ss834162913, ss989971142, ss1067537842, ss1078778382, ss1346687367, ss1427057320, ss1576531127, ss1584084633, ss1629472834, ss1672466867, ss1691119904, ss1711343844, ss1752047033, ss1752047034, ss1917879070, ss1933323974, ss1946350229, ss1959467165, ss1967683691, ss2027418808, ss2155768807, ss2628190507, ss2633009943, ss2700126900, ss2740151717, ss2748965956, ss2915328629, ss2984991474, ss3010368481, ss3021467509, ss3023068029, ss3350253903, ss3626971527, ss3626971528, ss3631016266, ss3633034619, ss3633736145, ss3634524330, ss3634524331, ss3635426606, ss3636210148, ss3637177614, ss3637987678, ss3640231663, ss3640231664, ss3644603232, ss3646447506, ss3651850536, ss3653761379, ss3677668687, ss3739391654, ss3744401280, ss3744825144, ss3744825145, ss3750978815, ss3772324345, ss3772324346, ss3787338793, ss3792420293, ss3797303375, ss3824773257, ss3825528859, ss3825544041, ss3825829321, ss3833330975, ss3840237361, ss3879136788, ss3927885456, ss3984037873, ss3984673390, ss3985615501, ss3986061029, ss3986586936, ss5208224202, ss5315649942, ss5408307980, ss5624036836, ss5653979139, ss5799448972, ss5799884255, ss5800180447, ss5838530401, ss5847684136, ss5848363427, ss5936554518, ss5945387639, ss5981278497 NC_000012.11:113348869:G:A NC_000012.12:112911064:G:A (self)
RCV000015022.3, RCV001513965.5, 78050327, 419723318, 939701, 92404787, 148775974, 4946444577, ss275515633, ss2193296190, ss3027519061, ss3649923744, ss3694490165, ss3771718232, ss3816310409, ss3845726020, ss4933230317, ss5236909381, ss5237222029, ss5237660891, ss5292276477, ss5314436767, ss5486875114, ss5590524392, ss5758567683, ss5813654898, ss5850551378, ss5906071351 NC_000012.12:112911064:G:A NC_000012.12:112911064:G:A (self)
ss15929355, ss20882594 NT_009775.14:3867611:G:A NC_000012.12:112911064:G:A (self)
ss2982326, ss4927987, ss24415187, ss38958181, ss48296075, ss66648692, ss67298525, ss67703112, ss69120825, ss70777155, ss71353281, ss74809213, ss75496137, ss76443479, ss76868619, ss79163977, ss84163588, ss97254427, ss103083245, ss122203654, ss132064228, ss133365670, ss154264317, ss157918992, ss159441160, ss159727288, ss160634350, ss171619367, ss173618373 NT_009775.17:3925399:G:A NC_000012.12:112911064:G:A (self)
ss198703403 NC_000012.10:111833252:G:C NC_000012.12:112911064:G:C (self)
4946444577 NC_000012.12:112911064:G:C NC_000012.12:112911064:G:C (self)
35062850, ss3927885456 NC_000012.11:113348869:G:T NC_000012.12:112911064:G:T (self)
Help

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

25 citations for rs1131454
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
16014697 Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype? Tessier MC et al. 2006 Journal of medical genetics
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
19434718 Variants in interferon-alpha pathway genes and response to pegylated interferon-Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long-term treatment against cirrhosis trial. Welzel TM et al. 2009 Hepatology (Baltimore, Md.)
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
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
21173033 RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Lalonde E et al. 2011 Genome research
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
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
24819159 Association of dengue virus infection susceptibility with polymorphisms of 2'-5'-oligoadenylate synthetase genes: a case-control study. Thamizhmani R et al. 2014 The Brazilian journal of infectious diseases
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
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
30131040 [Fibrogenesis Genes and Susceptibility to Coronary Atherosclerosis]. Goncharova IA et al. 2018 Kardiologiia
30497421 2'-5'-Oligoadenylate synthetase 1 polymorphisms are associated with tuberculosis: a case-control study. Wu S et al. 2018 BMC pulmonary medicine
31068279 [OAS1 gene polymorphism is associated with central nervous system involvement in children with enterovirus 71 infection]. Yaping LI et al. 2019 Nan fang yi ke da xue xue bao = Journal of Southern Medical University
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
34619763 A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene. Magusali N et al. 2021 Brain
34765983 Identification of Aggravation-Predicting Gene Polymorphisms in Coronavirus Disease 2019 Patients Using a Candidate Gene Approach Associated With Multiple Phase Pathogenesis: A Study in a Japanese City of 1 Million People. Tanimine N et al. 2021 Critical care explorations
35383824 OAS1 rs1131454 genetic variant is associated with Alzheimer's disease: an epidemiological analysis. Padhi S et al. 2022 Brain
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.post761+d5e8e07