rs6956800

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0200 (5989/29920,GnomAD)
C=0211 (6159/29118,TOPMED)
C=0226 (1133/5008,1000G)
C=0146 (561/3854,ALSPAC)
C=0138 (513/3708,TWINSUK)
chr7:53966977 (GRCh38.p7) (7p11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.53966977T>C
GRCh37.p13 chr 7NC_000007.13:g.54034670T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.703C=0.297
1000GenomesAmericanSub694T=0.850C=0.150
1000GenomesEast AsianSub1008T=0.743C=0.257
1000GenomesEuropeSub1006T=0.856C=0.144
1000GenomesGlobalStudy-wide5008T=0.774C=0.226
1000GenomesSouth AsianSub978T=0.760C=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.854C=0.146
The Genome Aggregation DatabaseAfricanSub8704T=0.727C=0.273
The Genome Aggregation DatabaseAmericanSub836T=0.860C=0.140
The Genome Aggregation DatabaseEast AsianSub1594T=0.762C=0.238
The Genome Aggregation DatabaseEuropeSub18484T=0.833C=0.166
The Genome Aggregation DatabaseGlobalStudy-wide29920T=0.799C=0.200
The Genome Aggregation DatabaseOtherSub302T=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.788C=0.211
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.862C=0.138
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
rs69568000.000599alcohol consumption (maxi-drinks)24277619

eQTL of rs6956800 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 rs6956800 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 )
chr75401479354014932E081-19738
chr75401513654015238E081-19432
chr75401588154015944E081-18726
chr75401598454016044E081-18626