rs1399665

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0292 (8757/29940,GnomAD)
A==0265 (7743/29116,TOPMED)
A==0272 (1363/5008,1000G)
A==0355 (1368/3854,ALSPAC)
A==0343 (1272/3708,TWINSUK)
chr2:111667963 (GRCh38.p7) (2q13)
AD
GWASdb2
1   publication(s)
See rs on genome
30 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.111667963A>G
GRCh37.p13 chr 2NC_000002.11:g.112425540A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.142G=0.858
1000GenomesAmericanSub694A=0.320G=0.680
1000GenomesEast AsianSub1008A=0.333G=0.667
1000GenomesEuropeSub1006A=0.334G=0.666
1000GenomesGlobalStudy-wide5008A=0.272G=0.728
1000GenomesSouth AsianSub978A=0.280G=0.720
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.355G=0.645
The Genome Aggregation DatabaseAfricanSub8708A=0.175G=0.825
The Genome Aggregation DatabaseAmericanSub836A=0.340G=0.660
The Genome Aggregation DatabaseEast AsianSub1620A=0.300G=0.700
The Genome Aggregation DatabaseEuropeSub18474A=0.344G=0.655
The Genome Aggregation DatabaseGlobalStudy-wide29940A=0.292G=0.707
The Genome Aggregation DatabaseOtherSub302A=0.310G=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.265G=0.734
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.343G=0.657
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
rs13996650.000666alcohol dependence24277619

eQTL of rs1399665 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 rs1399665 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 )
chr2112462901112464321E07037361
chr2112464516112464643E07038976
chr2112433581112433731E0728041
chr2112419497112419604E081-5936
chr2112419728112420435E081-5105
chr2112420457112420513E081-5027
chr2112420740112420891E081-4649
chr2112433352112433490E0817812
chr2112433581112433731E0818041
chr2112434054112434302E0818514
chr2112434448112434529E0818908
chr2112435017112435057E0819477
chr2112435151112435211E0819611
chr2112435485112435572E0819945
chr2112435883112436108E08110343
chr2112436209112436591E08110669
chr2112436641112436704E08111101
chr2112436753112437061E08111213
chr2112449091112449472E08123551
chr2112449553112449603E08124013
chr2112449709112449759E08124169
chr2112449868112450073E08124328
chr2112456326112457104E08130786
chr2112462901112464321E08137361
chr2112465304112465370E08139764
chr2112466166112466234E08140626
chr2112466329112466623E08140789
chr2112436209112436591E08210669
chr2112456326112457104E08230786
chr2112462901112464321E08237361