rs7953222

Homo sapiens
C>T
OVOS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0122 (3672/29938,GnomAD)
T=0177 (5181/29118,TOPMED)
T=0140 (701/5008,1000G)
T=0058 (223/3854,ALSPAC)
T=0056 (206/3708,TWINSUK)
chr12:31158141 (GRCh38.p7) (12p11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
36 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.31158141C>T
GRCh37.p13 chr 12NC_000012.11:g.31311075C>T
GRCh38.p7 chr 12 alt locus HSCHR12_4_CTG2NT_187587.1:g.48935C>T

Gene: OVOS2, uncharacterized OVOS2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OVOS2 transcriptXM_017020288.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.714T=0.286
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.886T=0.114
1000GenomesEuropeSub1006C=0.939T=0.061
1000GenomesGlobalStudy-wide5008C=0.860T=0.140
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.942T=0.058
The Genome Aggregation DatabaseAfricanSub8694C=0.722T=0.278
The Genome Aggregation DatabaseAmericanSub836C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1620C=0.883T=0.117
The Genome Aggregation DatabaseEuropeSub18486C=0.947T=0.052
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.877T=0.122
The Genome Aggregation DatabaseOtherSub302C=0.870T=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.822T=0.177
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.944T=0.056
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs79532220.00057alcohol dependence20201924

eQTL of rs7953222 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 rs7953222 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 )
chr123132821031328262E07017135
chr123126982531269879E071-41196


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr123127099731272685E067-38390
chr123127280031273000E067-38075
chr123127099731272685E068-38390
chr123127280031273000E068-38075
chr123127302231273191E068-37884
chr123127326731273361E068-37714
chr123127280031273000E069-38075
chr123127302231273191E069-37884
chr123127326731273361E069-37714
chr123126995431270689E070-40386
chr123127076031270967E070-40108
chr123127099731272685E070-38390
chr123127280031273000E070-38075
chr123127302231273191E070-37884
chr123127326731273361E070-37714
chr123127358831273652E070-37423
chr123127369231273964E070-37111
chr123127302231273191E071-37884
chr123127326731273361E071-37714
chr123127358831273652E071-37423
chr123127280031273000E072-38075
chr123127302231273191E072-37884
chr123127326731273361E072-37714
chr123127302231273191E073-37884
chr123127326731273361E073-37714
chr123127358831273652E073-37423
chr123127099731272685E074-38390
chr123127280031273000E074-38075
chr123127302231273191E074-37884
chr123127326731273361E074-37714
chr123126995431270689E082-40386
chr123127076031270967E082-40108
chr123127099731272685E082-38390
chr123127280031273000E082-38075
chr123127302231273191E082-37884
chr123127326731273361E082-37714