rs12964446

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0279 (8364/29944,GnomAD)
C=0280 (8162/29118,TOPMED)
C=0256 (1284/5008,1000G)
C=0334 (1288/3854,ALSPAC)
C=0335 (1242/3708,TWINSUK)
chr18:77221047 (GRCh38.p7) (18q23)
AD
GWASdb2
1   publication(s)
See rs on genome
12 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.77221047A>C
GRCh37.p13 chr 18NC_000018.9:g.74933003A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.769C=0.231
1000GenomesAmericanSub694A=0.780C=0.220
1000GenomesEast AsianSub1008A=0.859C=0.141
1000GenomesEuropeSub1006A=0.639C=0.361
1000GenomesGlobalStudy-wide5008A=0.744C=0.256
1000GenomesSouth AsianSub978A=0.680C=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.666C=0.334
The Genome Aggregation DatabaseAfricanSub8702A=0.753C=0.247
The Genome Aggregation DatabaseAmericanSub836A=0.840C=0.160
The Genome Aggregation DatabaseEast AsianSub1622A=0.882C=0.118
The Genome Aggregation DatabaseEuropeSub18482A=0.687C=0.312
The Genome Aggregation DatabaseGlobalStudy-wide29944A=0.720C=0.279
The Genome Aggregation DatabaseOtherSub302A=0.620C=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.719C=0.280
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.665C=0.335
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
rs129644460.000524alcohol dependence24277619

eQTL of rs12964446 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 rs12964446 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 )
chr187491873274919303E067-13700
chr187491932474919944E067-13059
chr187492206874922133E067-10870
chr187491873274919303E069-13700
chr187491932474919944E069-13059
chr187488538774885889E071-47114
chr187491873274919303E071-13700
chr187492304774923303E071-9700
chr187492333674923459E071-9544
chr187492375174924104E071-8899
chr187491873274919303E074-13700
chr187491932474919944E074-13059




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr187496142174961494E06728418
chr187496154474963664E06728541
chr187496142174961494E06828418
chr187496154474963664E06828541
chr187496370674964057E06830703
chr187496142174961494E06928418
chr187496154474963664E06928541
chr187496142174961494E07028418
chr187496154474963664E07028541
chr187496370674964057E07130703
chr187496084974961396E07227846
chr187496142174961494E07228418
chr187496084974961396E07327846
chr187496142174961494E07428418
chr187496154474963664E07428541
chr187496370674964057E07430703
chr187496084974961396E08227846
chr187496142174961494E08228418
chr187496154474963664E08228541