rs17053117

Homo sapiens
G>A / G>T
None
Check p-value
SNV (Single Nucleotide Variation)
A=0070 (2104/29948,GnomAD)
A=0087 (436/5008,1000G)
A=0030 (117/3854,ALSPAC)
A=0030 (110/3708,TWINSUK)
chr13:52969032 (GRCh38.p7) (13q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
77 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.52969032G>A
GRCh38.p7 chr 13NC_000013.11:g.52969032G>T
GRCh37.p13 chr 13NC_000013.10:g.53543167G>A
GRCh37.p13 chr 13NC_000013.10:g.53543167G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.830A=0.170
1000GenomesAmericanSub694G=0.970A=0.030
1000GenomesEast AsianSub1008G=0.868A=0.132
1000GenomesEuropeSub1006G=0.967A=0.033
1000GenomesGlobalStudy-wide5008G=0.913A=0.087
1000GenomesSouth AsianSub978G=0.970A=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.970A=0.030
The Genome Aggregation DatabaseAfricanSub8714G=0.845T=0.000
The Genome Aggregation DatabaseAmericanSub838G=0.970T=0.00,
The Genome Aggregation DatabaseEast AsianSub1616G=0.858T=0.000
The Genome Aggregation DatabaseEuropeSub18478G=0.974T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29948G=0.929T=0.000
The Genome Aggregation DatabaseOtherSub302G=0.910T=0.00,
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.970A=0.030
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
rs170531170.000437alcohol dependence24277619

eQTL of rs17053117 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 rs17053117 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 )
chr139743248597432619E067-39937
chr139743314097433215E067-39341
chr139743332397433373E067-39183
chr139743340897433785E067-38771
chr139743455997434603E067-37953
chr139743506697435116E067-37440
chr139743548097435608E067-36948
chr139743584997436073E067-36483
chr139743314097433215E068-39341
chr139743332397433373E068-39183
chr139743340897433785E068-38771
chr139743455997434603E068-37953
chr139743506697435116E068-37440
chr139743548097435608E068-36948
chr139743584997436073E068-36483
chr139743833297438460E068-34096
chr139743852097438620E068-33936
chr139743314097433215E069-39341
chr139743332397433373E069-39183
chr139743340897433785E069-38771
chr139743455997434603E069-37953
chr139743506697435116E069-37440
chr139743548097435608E069-36948
chr139743833297438460E069-34096
chr139743852097438620E069-33936
chr139743455997434603E071-37953
chr139743506697435116E071-37440
chr139743548097435608E071-36948
chr139743584997436073E071-36483
chr139743647197436555E071-36001
chr139743833297438460E071-34096
chr139743852097438620E071-33936
chr139744791997448018E071-24538
chr139744802797448260E071-24296
chr139744828497448617E071-23939
chr139744931097449669E071-22887
chr139744979397449843E071-22713
chr139743206197432401E072-40155
chr139743248597432619E072-39937
chr139743314097433215E072-39341
chr139743332397433373E072-39183
chr139743340897433785E072-38771
chr139743455997434603E072-37953
chr139743506697435116E072-37440
chr139743548097435608E072-36948
chr139743833297438460E072-34096
chr139743852097438620E072-33936
chr139743314097433215E073-39341
chr139743332397433373E073-39183
chr139743340897433785E073-38771
chr139743455997434603E073-37953
chr139743506697435116E073-37440
chr139743314097433215E074-39341
chr139743332397433373E074-39183
chr139743340897433785E074-38771
chr139743455997434603E074-37953
chr139743506697435116E074-37440
chr139743584997436073E074-36483
chr139743833297438460E074-34096
chr139743852097438620E074-33936
chr139747006497470166E074-2390
chr139747054897470636E074-1920
chr139743314097433215E081-39341
chr139743332397433373E081-39183
chr139743340897433785E081-38771
chr139744828497448617E081-23939
chr139744864697448749E081-23807
chr139744887297448922E081-23634
chr139744911397449174E081-23382
chr139744920897449295E081-23261
chr139748744097487529E08114884
chr139748770797487761E08115151
chr139748784497488161E08115288
chr139748836197488401E08115805
chr139750394797504419E08131391
chr139742375197424510E082-48046
chr139742477197424965E082-47591