rs12527897

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0217 (6502/29964,GnomAD)
G=0234 (6820/29118,TOPMED)
G=0176 (880/5008,1000G)
G=0280 (1079/3854,ALSPAC)
G=0254 (941/3708,TWINSUK)
chr6:7632010 (GRCh38.p7) (6p24.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.7632010A>G
GRCh37.p13 chr 6NC_000006.11:g.7632243A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.831G=0.169
1000GenomesAmericanSub694A=0.810G=0.190
1000GenomesEast AsianSub1008A=0.961G=0.039
1000GenomesEuropeSub1006A=0.728G=0.272
1000GenomesGlobalStudy-wide5008A=0.824G=0.176
1000GenomesSouth AsianSub978A=0.780G=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.720G=0.280
The Genome Aggregation DatabaseAfricanSub8718A=0.837G=0.163
The Genome Aggregation DatabaseAmericanSub838A=0.830G=0.170
The Genome Aggregation DatabaseEast AsianSub1622A=0.972G=0.028
The Genome Aggregation DatabaseEuropeSub18484A=0.742G=0.257
The Genome Aggregation DatabaseGlobalStudy-wide29964A=0.783G=0.217
The Genome Aggregation DatabaseOtherSub302A=0.590G=0.410
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.765G=0.234
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.746G=0.254
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
rs125278970.000499alcohol consumption (maxi-drinks)24277619

eQTL of rs12527897 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 rs12527897 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 )
chr675921667592285E067-39958
chr676744217674471E06742178
chr675921667592285E068-39958
chr676744217674471E06842178
chr675894017589855E069-42388
chr675921667592285E069-39958
chr676157267616508E069-15735
chr675921667592285E070-39958
chr675928717593143E070-39100
chr676812667681334E07049023
chr676819947682085E07049751
chr676821437682228E07049900
chr675921667592285E071-39958
chr676737867673939E07141543
chr675921667592285E072-39958
chr675894017589855E073-42388
chr675921667592285E073-39958
chr675928717593143E073-39100
chr675934867593566E073-38677
chr676157267616508E073-15735
chr675921667592285E074-39958
chr676157267616508E074-15735
chr675921667592285E081-39958
chr676819947682085E08249751
chr676821437682228E08249900










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr675899667590046E067-42197
chr675900767591107E067-41136
chr675912717591427E067-40816
chr675899667590046E068-42197
chr675900767591107E068-41136
chr675912717591427E068-40816
chr675899667590046E069-42197
chr675900767591107E069-41136
chr675912717591427E069-40816
chr675899667590046E070-42197
chr675900767591107E070-41136
chr675912717591427E070-40816
chr675899667590046E071-42197
chr675900767591107E071-41136
chr675912717591427E071-40816
chr675899667590046E072-42197
chr675900767591107E072-41136
chr675912717591427E072-40816
chr675899667590046E073-42197
chr675900767591107E073-41136
chr675912717591427E073-40816
chr675899667590046E074-42197
chr675900767591107E074-41136
chr675912717591427E074-40816
chr675899667590046E081-42197
chr675900767591107E081-41136
chr675899667590046E082-42197
chr675900767591107E082-41136
chr675912717591427E082-40816