rs2226194

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0351 (10529/29954,GnomAD)
T=0350 (10200/29116,TOPMED)
T=0368 (1843/5008,1000G)
T=0302 (1165/3854,ALSPAC)
T=0287 (1065/3708,TWINSUK)
chr13:52981121 (GRCh38.p7) (13q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
99 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.52981121C>T
GRCh37.p13 chr 13NC_000013.10:g.53555256C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.606T=0.394
1000GenomesAmericanSub694C=0.580T=0.420
1000GenomesEast AsianSub1008C=0.597T=0.403
1000GenomesEuropeSub1006C=0.692T=0.308
1000GenomesGlobalStudy-wide5008C=0.632T=0.368
1000GenomesSouth AsianSub978C=0.680T=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.698T=0.302
The Genome Aggregation DatabaseAfricanSub8710C=0.607T=0.393
The Genome Aggregation DatabaseAmericanSub838C=0.610T=0.390
The Genome Aggregation DatabaseEast AsianSub1614C=0.551T=0.449
The Genome Aggregation DatabaseEuropeSub18490C=0.678T=0.321
The Genome Aggregation DatabaseGlobalStudy-wide29954C=0.648T=0.351
The Genome Aggregation DatabaseOtherSub302C=0.640T=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.649T=0.350
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.713T=0.287
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
rs22261940.000997alcohol consumption (maxi-drinks)24277619

eQTL of rs2226194 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 rs2226194 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 )
chr135350629653506437E067-48819
chr135352438953524439E067-30817
chr135352475153524954E067-30302
chr135350572753506254E068-49002
chr135350629653506437E068-48819
chr135350659253506659E068-48597
chr135350677053507079E068-48177
chr135352139953521449E068-33807
chr135352145953521519E068-33737
chr135352157153521625E068-33631
chr135352172753521815E068-33441
chr135352189953522908E068-32348
chr135352383853524202E068-31054
chr135352438953524439E068-30817
chr135352959953530131E068-25125
chr135350572753506254E069-49002
chr135350629653506437E069-48819
chr135350659253506659E069-48597
chr135352172753521815E069-33441
chr135352189953522908E069-32348
chr135352438953524439E069-30817
chr135352475153524954E069-30302
chr135354988853549943E069-5313
chr135350572753506254E070-49002
chr135350629653506437E070-48819
chr135350659253506659E070-48597
chr135352172753521815E070-33441
chr135352189953522908E070-32348
chr135354880653548895E070-6361
chr135354920353549709E070-5547
chr135354988853549943E070-5313
chr135355002253550215E070-5041
chr135352172753521815E071-33441
chr135352383853524202E071-31054
chr135352438953524439E071-30817
chr135350572753506254E072-49002
chr135350629653506437E072-48819
chr135350659253506659E072-48597
chr135352331953523497E072-31759
chr135352350653523686E072-31570
chr135352383853524202E072-31054
chr135352438953524439E072-30817
chr135352475153524954E072-30302
chr135350572753506254E073-49002
chr135350629653506437E073-48819
chr135350659253506659E073-48597
chr135350677053507079E073-48177
chr135350713653507307E073-47949
chr135352172753521815E073-33441
chr135352189953522908E073-32348
chr135352350653523686E073-31570
chr135352139953521449E074-33807
chr135352145953521519E074-33737
chr135352157153521625E074-33631
chr135352172753521815E074-33441
chr135352331953523497E074-31759
chr135352350653523686E074-31570
chr135350572753506254E081-49002
chr135350629653506437E081-48819
chr135350659253506659E081-48597
chr135350677053507079E081-48177
chr135350713653507307E081-47949
chr135350733853507634E081-47622
chr135350770353507852E081-47404
chr135350791953507988E081-47268
chr135350803553508548E081-46708
chr135350858353508683E081-46573
chr135352157153521625E081-33631
chr135352172753521815E081-33441
chr135352189953522908E081-32348
chr135354340053543472E081-11784
chr135354920353549709E081-5547
chr135354988853549943E081-5313
chr135355002253550215E081-5041
chr135355043853550570E081-4686
chr135355069953550778E081-4478
chr135350572753506254E082-49002
chr135350629653506437E082-48819
chr135350659253506659E082-48597
chr135350677053507079E082-48177
chr135350713653507307E082-47949
chr135350733853507634E082-47622
chr135351461353514663E082-40593
chr135351476453515048E082-40208
chr135352189953522908E082-32348
chr135352383853524202E082-31054
chr135354315753543291E082-11965
chr135354329453543392E082-11864
chr135354340053543472E082-11784
chr135354364353543770E082-11486
chr135354578153545925E082-9331
chr135354602053546070E082-9186
chr135354609953546459E082-8797
chr135354920353549709E082-5547
chr135354988853549943E082-5313
chr135355002253550215E082-5041
chr135355043853550570E082-4686
chr135355069953550778E082-4478
chr135355106053551119E082-4137