rs11597975

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0129 (3868/29968,GnomAD)
G=0135 (3930/29118,TOPMED)
G=0119 (595/5008,1000G)
G=0167 (645/3854,ALSPAC)
G=0162 (599/3708,TWINSUK)
chr10:84595483 (GRCh38.p7) (10q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.84595483A>G
GRCh37.p13 chr 10NC_000010.10:g.86355239A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.896G=0.104
1000GenomesAmericanSub694A=0.870G=0.130
1000GenomesEast AsianSub1008A=0.919G=0.081
1000GenomesEuropeSub1006A=0.840G=0.160
1000GenomesGlobalStudy-wide5008A=0.881G=0.119
1000GenomesSouth AsianSub978A=0.870G=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.833G=0.167
The Genome Aggregation DatabaseAfricanSub8720A=0.884G=0.116
The Genome Aggregation DatabaseAmericanSub838A=0.900G=0.100
The Genome Aggregation DatabaseEast AsianSub1622A=0.932G=0.068
The Genome Aggregation DatabaseEuropeSub18486A=0.857G=0.142
The Genome Aggregation DatabaseGlobalStudy-wide29968A=0.870G=0.129
The Genome Aggregation DatabaseOtherSub302A=0.880G=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.865G=0.135
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.838G=0.162
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
rs115979750.000772alcohol dependence24277619

eQTL of rs11597975 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 rs11597975 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 )
chr108630855886308688E070-46551
chr108630869986308929E070-46310
chr108630906186309115E070-46124
chr108630925586309373E070-45866
chr108630939086309440E070-45799
chr108630960486309828E070-45411
chr108630997486310028E070-45211
chr108631006986310109E070-45130
chr108635323386353357E070-1882
chr108635338086353493E070-1746
chr108630751986307620E081-47619
chr108630766086307850E081-47389
chr108630997486310028E081-45211
chr108631006986310109E081-45130
chr108630751986307620E082-47619
chr108630766086307850E082-47389
chr108630925586309373E082-45866
chr108630939086309440E082-45799
chr108630960486309828E082-45411