rs7718197

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0198 (5929/29944,GnomAD)
T=0192 (5597/29118,TOPMED)
T=0158 (792/5008,1000G)
T=0233 (899/3854,ALSPAC)
T=0241 (895/3708,TWINSUK)
chr5:53386186 (GRCh38.p7) (5q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.53386186C>T
GRCh37.p13 chr 5NC_000005.9:g.52682016C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.890T=0.110
1000GenomesAmericanSub694C=0.800T=0.200
1000GenomesEast AsianSub1008C=0.846T=0.154
1000GenomesEuropeSub1006C=0.768T=0.232
1000GenomesGlobalStudy-wide5008C=0.842T=0.158
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.767T=0.233
The Genome Aggregation DatabaseAfricanSub8714C=0.885T=0.115
The Genome Aggregation DatabaseAmericanSub836C=0.810T=0.190
The Genome Aggregation DatabaseEast AsianSub1614C=0.841T=0.159
The Genome Aggregation DatabaseEuropeSub18480C=0.761T=0.239
The Genome Aggregation DatabaseGlobalStudy-wide29944C=0.802T=0.198
The Genome Aggregation DatabaseOtherSub300C=0.690T=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.807T=0.192
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.759T=0.241
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
rs77181970.000852alcohol consumption (maxi-drinks)24277619

eQTL of rs7718197 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 rs7718197 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 )
chr55264562552645853E081-36163
chr55264595252646529E081-35487
chr55264689852647027E081-34989
chr55264734052647447E081-34569
chr55264689852647027E082-34989