rs1999186

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
G==0121 (3635/29968,GnomAD)
G==0148 (4318/29118,TOPMED)
G==0162 (812/5008,1000G)
G==0059 (227/3854,ALSPAC)
G==0058 (215/3708,TWINSUK)
chr1:85619862 (GRCh38.p7) (1p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.85619862G>A
GRCh37.p13 chr 1NC_000001.10:g.86085545G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.330A=0.670
1000GenomesAmericanSub694G=0.090A=0.910
1000GenomesEast AsianSub1008G=0.141A=0.859
1000GenomesEuropeSub1006G=0.063A=0.937
1000GenomesGlobalStudy-wide5008G=0.162A=0.838
1000GenomesSouth AsianSub978G=0.110A=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.059A=0.941
The Genome Aggregation DatabaseAfricanSub8710G=0.272A=0.728
The Genome Aggregation DatabaseAmericanSub838G=0.110A=0.890
The Genome Aggregation DatabaseEast AsianSub1618G=0.117A=0.883
The Genome Aggregation DatabaseEuropeSub18500G=0.053A=0.947
The Genome Aggregation DatabaseGlobalStudy-wide29968G=0.121A=0.878
The Genome Aggregation DatabaseOtherSub302G=0.020A=0.980
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.148A=0.851
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.058A=0.942
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
rs19991860.000651alcohol dependence24277619

eQTL of rs1999186 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 rs1999186 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 )
chr18604497186045054E068-40491
chr18608335386083777E068-1768
chr18608335386083777E069-1768
chr18604497186045054E070-40491
chr18604497186045054E071-40491
chr18608133586081582E071-3963
chr18608335386083777E071-1768
chr18608133586081582E072-3963
chr18608163386081869E072-3676
chr18608335386083777E072-1768
chr18608335386083777E074-1768
chr18604463486044881E081-40664
chr18604497186045054E081-40491
chr18604933986051194E081-34351
chr18605352986054052E081-31493
chr18606488286065063E081-20482
chr18606546786065756E081-19789
chr18608133586081582E081-3963
chr18608163386081869E081-3676
chr18608192486082516E081-3029
chr18604463486044881E082-40664
chr18605202986052142E082-33403
chr18605352986054052E082-31493
chr18608133586081582E082-3963








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr18604188186044595E067-40950
chr18604519286049306E067-36239
chr18604188186044595E068-40950
chr18604519286049306E068-36239
chr18604519286049306E069-36239
chr18604519286049306E070-36239
chr18604188186044595E071-40950
chr18604519286049306E071-36239
chr18604519286049306E072-36239
chr18604188186044595E073-40950
chr18604519286049306E073-36239
chr18604188186044595E074-40950
chr18604519286049306E074-36239
chr18604519286049306E082-36239