rs7928451

Homo sapiens
G>A
OR10A6 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0411 (49795/121080,ExAC)
A=0381 (11421/29922,GnomAD)
A=0344 (10031/29118,TOPMED)
G==0360 (4687/12994,GO-ESP)
A=0394 (1975/5008,1000G)
A=0391 (1508/3854,ALSPAC)
A=0387 (1436/3708,TWINSUK)
chr11:7928313 (GRCh38.p7) (11p15.4)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.7928313G>A
GRCh37.p13 chr 11NC_000011.9:g.7949860G>A
GRCh38.p7 chr 11 novel patch HSCHR11_1_CTG1_2NW_011332695.1:g.159307G>A
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG5NT_187583.1:g.159814G>A

Gene: OR10A6, olfactory receptor family 10 subfamily A member 6 (gene/pseudogene)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OR10A6 transcriptNM_001004461.1:c....NM_001004461.1:c.350C>TA [GCA]> V [GTA]Coding Sequence Variant
olfactory receptor 10A6NP_001004461.1:p....NP_001004461.1:p.Ala117ValA [Ala]> V [Val]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.731A=0.269
1000GenomesAmericanSub694G=0.620A=0.380
1000GenomesEast AsianSub1008G=0.506A=0.494
1000GenomesEuropeSub1006G=0.575A=0.425
1000GenomesGlobalStudy-wide5008G=0.606A=0.394
1000GenomesSouth AsianSub978G=0.560A=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.609A=0.391
The Exome Aggregation ConsortiumAmericanSub21764G=0.673A=0.326
The Exome Aggregation ConsortiumAsianSub25144G=0.518A=0.481
The Exome Aggregation ConsortiumEuropeSub73264G=0.588A=0.412
The Exome Aggregation ConsortiumGlobalStudy-wide121080G=0.588A=0.411
The Exome Aggregation ConsortiumOtherSub908G=0.570A=0.430
The Genome Aggregation DatabaseAfricanSub8708G=0.714A=0.286
The Genome Aggregation DatabaseAmericanSub836G=0.620A=0.380
The Genome Aggregation DatabaseEast AsianSub1602G=0.500A=0.500
The Genome Aggregation DatabaseEuropeSub18474G=0.585A=0.414
The Genome Aggregation DatabaseGlobalStudy-wide29922G=0.618A=0.381
The Genome Aggregation DatabaseOtherSub302G=0.500A=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.655A=0.344
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.613A=0.387
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs79284512.55E-05alcohol consumption23953852

eQTL of rs7928451 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs7928451 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr1179858687986265E07036008
chr1179858687986265E08236008


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1179492487949467E074-393
chr1179494767949625E074-235