rs9312745

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0315 (9434/29908,GnomAD)
G=0327 (9526/29118,TOPMED)
G=0291 (1457/5008,1000G)
G=0285 (1100/3854,ALSPAC)
G=0272 (1007/3708,TWINSUK)
chr5:10827578 (GRCh38.p7) (5p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
31 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.10827578A>G
GRCh37.p13 chr 5NC_000005.9:g.10827690A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.584G=0.416
1000GenomesAmericanSub694A=0.770G=0.230
1000GenomesEast AsianSub1008A=0.855G=0.145
1000GenomesEuropeSub1006A=0.681G=0.319
1000GenomesGlobalStudy-wide5008A=0.709G=0.291
1000GenomesSouth AsianSub978A=0.710G=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.715G=0.285
The Genome Aggregation DatabaseAfricanSub8688A=0.607G=0.393
The Genome Aggregation DatabaseAmericanSub838A=0.760G=0.240
The Genome Aggregation DatabaseEast AsianSub1620A=0.891G=0.109
The Genome Aggregation DatabaseEuropeSub18460A=0.699G=0.300
The Genome Aggregation DatabaseGlobalStudy-wide29908A=0.684G=0.315
The Genome Aggregation DatabaseOtherSub302A=0.700G=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.672G=0.327
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.728G=0.272
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
rs93127453.42E-06alcohol consumption (maxi-drinks)24277619

eQTL of rs9312745 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 rs9312745 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 )
chr51085655910856641E06728869
chr51085793610858018E06730246
chr51078862110788704E068-38986
chr51078894110789641E068-38049
chr51085655910856641E06828869
chr51078862110788704E069-38986
chr51078894110789641E069-38049
chr51085655910856641E06928869
chr51085793610858018E06930246
chr51085675010857883E07029060
chr51078862110788704E071-38986
chr51085471210854914E07127022
chr51085502310855269E07127333
chr51078862110788704E072-38986
chr51078894110789641E072-38049
chr51085655910856641E07228869
chr51085655910856641E07328869
chr51085793610858018E07330246
chr51078894110789641E074-38049
chr51085655910856641E07428869
chr51085675010857883E07429060
chr51085655910856641E08128869
chr51085675010857883E08129060
chr51085793610858018E08130246
chr51085846610858516E08130776
chr51085858410858654E08130894
chr51087047510870629E08142785
chr51087081510871339E08143125
chr51085675010857883E08229060
chr51085793610858018E08230246
chr51087047510870629E08242785