rs17050411

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0109 (3278/29958,GnomAD)
C=0110 (3223/29116,TOPMED)
C=0123 (616/5008,1000G)
C=0119 (457/3854,ALSPAC)
C=0119 (440/3708,TWINSUK)
chr2:59752369 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
53 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.59752369T>C
GRCh37.p13 chr 2NC_000002.11:g.59979504T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.998C=0.002
1000GenomesAmericanSub694T=0.880C=0.120
1000GenomesEast AsianSub1008T=0.752C=0.248
1000GenomesEuropeSub1006T=0.853C=0.147
1000GenomesGlobalStudy-wide5008T=0.877C=0.123
1000GenomesSouth AsianSub978T=0.870C=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.881C=0.119
The Genome Aggregation DatabaseAfricanSub8702T=0.976C=0.024
The Genome Aggregation DatabaseAmericanSub838T=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1614T=0.746C=0.254
The Genome Aggregation DatabaseEuropeSub18502T=0.863C=0.136
The Genome Aggregation DatabaseGlobalStudy-wide29958T=0.890C=0.109
The Genome Aggregation DatabaseOtherSub302T=0.800C=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.889C=0.110
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.881C=0.119
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
rs170504110.000996alcohol dependence24277619

eQTL of rs17050411 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 rs17050411 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 )
chr25999767759997767E06718173
chr25999782359998206E06718319
chr25999767759997767E06818173
chr25999782359998206E06918319
chr25995264859952711E070-26793
chr25995348359954157E070-25347
chr26001682560017235E07037321
chr26001781460017929E07038310
chr26001801560018333E07038511
chr26001855660018666E07039052
chr25995465659954876E071-24628
chr25996044459960513E071-18991
chr25996052159960624E071-18880
chr25996064959960721E071-18783
chr25996076959961192E071-18312
chr25999767759997767E07118173
chr25999782359998206E07118319
chr26002589960026096E07146395
chr25999767759997767E07218173
chr25999782359998206E07218319
chr25995264859952711E081-26793
chr25995348359954157E081-25347
chr25995425559954584E081-24920
chr25995465659954876E081-24628
chr25996010859960262E081-19242
chr25996044459960513E081-18991
chr25996052159960624E081-18880
chr25996064959960721E081-18783
chr25996076959961192E081-18312
chr25996201059962145E081-17359
chr25996232859962544E081-16960
chr25997299559973340E081-6164
chr25997338659973662E081-5842
chr25997666359976858E081-2646
chr25997799259978131E081-1373
chr25997939459979523E0810
chr25998025459980322E081750
chr25998106259981132E0811558
chr25998129259981415E0811788
chr25998159959981714E0812095
chr25998211759982167E0812613
chr25998494159985030E0815437
chr25998532059985374E0815816
chr26000209160002387E08122587
chr26000243960002506E08122935
chr25996642759966560E082-12944
chr25996679959966998E082-12506
chr25997230959972488E082-7016
chr25997299559973340E082-6164
chr25998129259981415E0821788
chr25998159959981714E0822095
chr25998532059985374E0825816
chr26000209160002387E08222587