rs9580203

Homo sapiens
T>C / T>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0355 (10578/29772,GnomAD)
G=0294 (8574/29118,TOPMED)
G=0265 (1327/5008,1000G)
G=0421 (1621/3854,ALSPAC)
G=0410 (1519/3708,TWINSUK)
chr13:21805341 (GRCh38.p7) (13q12.11)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.21805341T>C
GRCh38.p7 chr 13NC_000013.11:g.21805341T>G
GRCh37.p13 chr 13NC_000013.10:g.22379480T>C
GRCh37.p13 chr 13NC_000013.10:g.22379480T>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.851G=0.149
1000GenomesAmericanSub694T=0.660G=0.340
1000GenomesEast AsianSub1008T=0.765G=0.235
1000GenomesEuropeSub1006T=0.560G=0.440
1000GenomesGlobalStudy-wide5008T=0.735G=0.265
1000GenomesSouth AsianSub978T=0.780G=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.579G=0.421
The Genome Aggregation DatabaseAfricanSub8686T=0.813G=0.187
The Genome Aggregation DatabaseAmericanSub836T=0.690G=0.31,
The Genome Aggregation DatabaseEast AsianSub1616T=0.787G=0.213
The Genome Aggregation DatabaseEuropeSub18332T=0.550G=0.449
The Genome Aggregation DatabaseGlobalStudy-wide29772T=0.644G=0.355
The Genome Aggregation DatabaseOtherSub302T=0.650G=0.35,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.705G=0.294
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.590G=0.410
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
rs95802030.00031alcohol consumption (maxi-drinks)24277619

eQTL of rs9580203 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 rs9580203 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 )
chr135802517758025303E081-17450
chr135806669158066859E08123938