rs597099

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0182 (5458/29968,GnomAD)
T=0177 (5180/29118,TOPMED)
T=0263 (1315/5008,1000G)
T=0130 (500/3854,ALSPAC)
T=0129 (479/3708,TWINSUK)
chr5:3139044 (GRCh38.p7) (5p15.33)
AD
GWASdb2
1   publication(s)
See rs on genome
41 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.3139044C>T
GRCh37.p13 chr 5NC_000005.9:g.3139158C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.744T=0.256
1000GenomesAmericanSub694C=0.840T=0.160
1000GenomesEast AsianSub1008C=0.580T=0.420
1000GenomesEuropeSub1006C=0.851T=0.149
1000GenomesGlobalStudy-wide5008C=0.737T=0.263
1000GenomesSouth AsianSub978C=0.700T=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.870T=0.130
The Genome Aggregation DatabaseAfricanSub8722C=0.752T=0.248
The Genome Aggregation DatabaseAmericanSub838C=0.850T=0.150
The Genome Aggregation DatabaseEast AsianSub1622C=0.560T=0.440
The Genome Aggregation DatabaseEuropeSub18484C=0.869T=0.130
The Genome Aggregation DatabaseGlobalStudy-wide29968C=0.817T=0.182
The Genome Aggregation DatabaseOtherSub302C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.822T=0.177
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.871T=0.129
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
rs5970999.5E-05alcohol dependence24277619

eQTL of rs597099 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 rs597099 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 )
chr531217833121920E068-17238
chr531395353139762E068377
chr531397853140073E068627
chr531173303117637E070-21521
chr531176653117729E070-21429
chr531178073118095E070-21063
chr531181123118162E070-20996
chr531183023118659E070-20499
chr531187013118919E070-20239
chr531189733119316E070-19842
chr531195313119616E070-19542
chr531866853187152E07047527
chr531872893187355E07048131
chr531071783107228E071-31930
chr531072553108006E071-31152
chr531183023118659E071-20499
chr531187013118919E071-20239
chr531189733119316E071-19842
chr531866853187152E07147527
chr531872893187355E07148131
chr531072553108006E074-31152
chr531794043179631E07440246
chr531071783107228E081-31930
chr531165493116609E081-22549
chr531167783116838E081-22320
chr531178073118095E081-21063
chr531181123118162E081-20996
chr531183023118659E081-20499
chr531187013118919E081-20239
chr531217833121920E081-17238
chr531219873122305E081-16853
chr531818353181988E08142677
chr531819933182171E08142835
chr531173303117637E082-21521
chr531176653117729E082-21429
chr531178073118095E082-21063
chr531181123118162E082-20996
chr531183023118659E082-20499
chr531187013118919E082-20239
chr531189733119316E082-19842
chr531201953120620E082-18538