rs8031813

Homo sapiens
C>A / C>T
SHC4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0350 (10483/29950,GnomAD)
C==0324 (1624/5008,1000G)
C==0295 (1136/3854,ALSPAC)
C==0286 (1060/3708,TWINSUK)
chr15:48961764 (GRCh38.p7) (15q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.48961764C>A
GRCh38.p7 chr 15NC_000015.10:g.48961764C>T
GRCh37.p13 chr 15NC_000015.9:g.49253961C>A
GRCh37.p13 chr 15NC_000015.9:g.49253961C>T

Gene: SHC4, SHC (Src homology 2 domain containing) family member 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SHC4 transcriptNM_203349.3:c.N/AIntron Variant
SHC4 transcript variant X1XM_005254375.3:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.494A=0.506
1000GenomesAmericanSub694C=0.230A=0.770
1000GenomesEast AsianSub1008C=0.177A=0.823
1000GenomesEuropeSub1006C=0.317A=0.683
1000GenomesGlobalStudy-wide5008C=0.324A=0.676
1000GenomesSouth AsianSub978C=0.320A=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.295A=0.705
The Genome Aggregation DatabaseAfricanSub8710C=0.441A=0.559
The Genome Aggregation DatabaseAmericanSub838C=0.250A=0.750
The Genome Aggregation DatabaseEast AsianSub1616C=0.163A=0.837
The Genome Aggregation DatabaseEuropeSub18484C=0.328A=0.671
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.350A=0.650
The Genome Aggregation DatabaseOtherSub302C=0.340A=0.660
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.286A=0.714
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs80318130.000681alcohol dependence24277619

eQTL of rs8031813 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 rs8031813 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 )
chr155010863250108856E081-4148
chr155010888850108985E081-4019