rs1567193

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0445 (13318/29918,GnomAD)
C=0496 (14467/29118,TOPMED)
T==0494 (2473/5008,1000G)
C=0321 (1236/3854,ALSPAC)
C=0313 (1159/3708,TWINSUK)
chr4:130041108 (GRCh38.p7) (4q28.2)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.130041108T>C
GRCh37.p13 chr 4NC_000004.11:g.130962263T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.259C=0.741
1000GenomesAmericanSub694T=0.510C=0.490
1000GenomesEast AsianSub1008T=0.413C=0.587
1000GenomesEuropeSub1006T=0.677C=0.323
1000GenomesGlobalStudy-wide5008T=0.494C=0.506
1000GenomesSouth AsianSub978T=0.700C=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.679C=0.321
The Genome Aggregation DatabaseAfricanSub8702T=0.308C=0.692
The Genome Aggregation DatabaseAmericanSub838T=0.520C=0.480
The Genome Aggregation DatabaseEast AsianSub1618T=0.413C=0.587
The Genome Aggregation DatabaseEuropeSub18458T=0.683C=0.316
The Genome Aggregation DatabaseGlobalStudy-wide29918T=0.554C=0.445
The Genome Aggregation DatabaseOtherSub302T=0.630C=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.503C=0.496
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.687C=0.313
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
rs15671938.08E-06alcohol dependence24277619

eQTL of rs1567193 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 rs1567193 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 )
chr4130931090130931253E072-31010
chr4130931640130931727E072-30536
chr4131008582131008684E08146319
chr4131008889131009244E08146626