rs11612603

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0287 (8598/29920,GnomAD)
T=0257 (7483/29118,TOPMED)
T=0284 (1423/5008,1000G)
T=0365 (1406/3854,ALSPAC)
T=0359 (1333/3708,TWINSUK)
chr12:30856623 (GRCh38.p7) (12p11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
27 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.30856623C>T
GRCh37.p13 chr 12NC_000012.11:g.31009557C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.923T=0.077
1000GenomesAmericanSub694C=0.590T=0.410
1000GenomesEast AsianSub1008C=0.654T=0.346
1000GenomesEuropeSub1006C=0.651T=0.349
1000GenomesGlobalStudy-wide5008C=0.716T=0.284
1000GenomesSouth AsianSub978C=0.660T=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.635T=0.365
The Genome Aggregation DatabaseAfricanSub8710C=0.885T=0.115
The Genome Aggregation DatabaseAmericanSub834C=0.490T=0.510
The Genome Aggregation DatabaseEast AsianSub1612C=0.644T=0.356
The Genome Aggregation DatabaseEuropeSub18462C=0.649T=0.350
The Genome Aggregation DatabaseGlobalStudy-wide29920C=0.712T=0.287
The Genome Aggregation DatabaseOtherSub302C=0.600T=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.743T=0.257
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.641T=0.359
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
rs116126030.000746alcohol consumption (maxi-drinks)24277619

eQTL of rs11612603 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr12:31009557TSPAN11ENSG00000110900.10C>T3.9221e-14-69805Hippocampus

meQTL of rs11612603 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 )
chr123096006130960191E068-49366
chr123102780931027959E06818252
chr123102800231028405E06818445
chr123104917331049223E06839616
chr123104924631049308E06839689
chr123097471030974978E069-34579
chr123104917331049223E06939616
chr123104924631049308E06939689
chr123104935531049736E06939798
chr123104980531049875E06940248
chr123104993731050033E06940380
chr123102780931027959E07018252
chr123097471030974978E071-34579
chr123104917331049223E07139616
chr123104924631049308E07139689
chr123104935531049736E07139798
chr123104980531049875E07140248
chr123104993731050033E07140380
chr123096006130960191E073-49366
chr123104917331049223E07339616
chr123104924631049308E07339689
chr123104935531049736E07339798
chr123097471030974978E074-34579
chr123104917331049223E07439616
chr123104924631049308E07439689
chr123104935531049736E07439798
chr123097471030974978E082-34579







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr123097507330976659E067-32898
chr123097507330976659E068-32898
chr123097507330976659E069-32898
chr123097507330976659E070-32898
chr123097507330976659E071-32898
chr123097507330976659E072-32898
chr123097507330976659E073-32898
chr123097507330976659E074-32898
chr123100359331005136E074-4421
chr123097507330976659E082-32898