rs4753350

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0489 (14614/29886,GnomAD)
G=0469 (13665/29118,TOPMED)
A==0448 (2244/5008,1000G)
A==0420 (1618/3854,ALSPAC)
A==0423 (1568/3708,TWINSUK)
chr11:91884381 (GRCh38.p7) (11q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
26 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.91884381A>G
GRCh37.p13 chr 11NC_000011.9:g.91617547A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.781G=0.219
1000GenomesAmericanSub694A=0.400G=0.600
1000GenomesEast AsianSub1008A=0.171G=0.829
1000GenomesEuropeSub1006A=0.426G=0.574
1000GenomesGlobalStudy-wide5008A=0.448G=0.552
1000GenomesSouth AsianSub978A=0.340G=0.660
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.420G=0.580
The Genome Aggregation DatabaseAfricanSub8700A=0.717G=0.283
The Genome Aggregation DatabaseAmericanSub834A=0.400G=0.600
The Genome Aggregation DatabaseEast AsianSub1616A=0.177G=0.823
The Genome Aggregation DatabaseEuropeSub18434A=0.449G=0.550
The Genome Aggregation DatabaseGlobalStudy-wide29886A=0.511G=0.489
The Genome Aggregation DatabaseOtherSub302A=0.430G=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.530G=0.469
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.423G=0.577
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
rs47533500.000485alcohol consumption (maxi-drinks)24277619

eQTL of rs4753350 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 rs4753350 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 )
chr119158379291584537E067-33010
chr119158520891585279E067-32268
chr119158548991585539E067-32008
chr119158379291584537E069-33010
chr119158520891585279E069-32268
chr119158326791583601E071-33946
chr119158379291584537E071-33010
chr119158520891585279E071-32268
chr119158548991585539E071-32008
chr119158580491585883E071-31664
chr119158326791583601E072-33946
chr119158379291584537E072-33010
chr119166540791665533E07247860
chr119166557991665649E07248032
chr119166578491665975E07248237
chr119158379291584537E074-33010
chr119158520891585279E074-32268
chr119160236291603242E081-14305
chr119160327891603609E081-13938
chr119160363391603683E081-13864
chr119160379991603849E081-13698
chr119160392791603977E081-13570
chr119160200091602069E082-15478
chr119160212091602209E082-15338
chr119160236291603242E082-14305
chr119160327891603609E082-13938