rs7991723

Homo sapiens
C>G / C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0479 (14363/29942,GnomAD)
T=0422 (12303/29116,TOPMED)
T=0368 (1842/5008,1000G)
C==0343 (1321/3854,ALSPAC)
C==0350 (1296/3708,TWINSUK)
chr13:59153386 (GRCh38.p7) (13q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.59153386C>G
GRCh38.p7 chr 13NC_000013.11:g.59153386C>T
GRCh37.p13 chr 13NC_000013.10:g.59727520C>G
GRCh37.p13 chr 13NC_000013.10:g.59727520C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.891T=0.109
1000GenomesAmericanSub694C=0.590T=0.410
1000GenomesEast AsianSub1008C=0.789T=0.211
1000GenomesEuropeSub1006C=0.298T=0.702
1000GenomesGlobalStudy-wide5008C=0.632T=0.368
1000GenomesSouth AsianSub978C=0.490T=0.510
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.343T=0.657
The Genome Aggregation DatabaseAfricanSub8718C=0.820T=0.180
The Genome Aggregation DatabaseAmericanSub834C=0.620T=0.38,
The Genome Aggregation DatabaseEast AsianSub1620C=0.828T=0.172
The Genome Aggregation DatabaseEuropeSub18468C=0.349T=0.650
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.520T=0.479
The Genome Aggregation DatabaseOtherSub302C=0.350T=0.65,
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.577T=0.422
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.350T=0.650
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
rs79917230.000909alcohol dependence24277619

eQTL of rs7991723 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 rs7991723 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 )
chr139763490697634961E071-3782
chr139767023697671121E07431493
chr139767023697671121E08131493



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr139764585597647260E0677112
chr139764585597647260E0687112
chr139764585597647260E0697112
chr139764585597647260E0707112
chr139764585597647260E0717112
chr139764727997647386E0718536
chr139764585597647260E0727112
chr139764585597647260E0737112
chr139764585597647260E0747112
chr139764585597647260E0827112