rs2094497

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0476 (14265/29910,GnomAD)
C=0429 (12508/29116,TOPMED)
C=0364 (1822/5008,1000G)
T==0415 (1600/3854,ALSPAC)
T==0402 (1492/3708,TWINSUK)
chr13:27335985 (GRCh38.p7) (13q12.2)
AD
GWASdb2
1   publication(s)
See rs on genome
129 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.27335985T>C
GRCh37.p13 chr 13NC_000013.10:g.27910122T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.819C=0.181
1000GenomesAmericanSub694T=0.440C=0.560
1000GenomesEast AsianSub1008T=0.783C=0.217
1000GenomesEuropeSub1006T=0.376C=0.624
1000GenomesGlobalStudy-wide5008T=0.636C=0.364
1000GenomesSouth AsianSub978T=0.640C=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.415C=0.585
The Genome Aggregation DatabaseAfricanSub8706T=0.756C=0.244
The Genome Aggregation DatabaseAmericanSub838T=0.470C=0.530
The Genome Aggregation DatabaseEast AsianSub1612T=0.752C=0.248
The Genome Aggregation DatabaseEuropeSub18452T=0.397C=0.602
The Genome Aggregation DatabaseGlobalStudy-wide29910T=0.523C=0.476
The Genome Aggregation DatabaseOtherSub302T=0.360C=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.570C=0.429
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.402C=0.598
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs20944971.1E-05alcoholism (heaviness of drinking)21529783

eQTL of rs2094497 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 rs2094497 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 )
chr132786270127862827E067-47295
chr132786315727863207E067-46915
chr132786328027863495E067-46627
chr132786359327863682E067-46440
chr132786372127863810E067-46312
chr132786403127864074E067-46048
chr132786415927864282E067-45840
chr132786483927865145E067-44977
chr132788500427885142E067-24980
chr132788525627885375E067-24747
chr132792427427924402E06714152
chr132792463827924692E06714516
chr132792485627924928E06714734
chr132792498027925030E06714858
chr132792794427928122E06717822
chr132792827927928343E06718157
chr132792842227928906E06718300
chr132792940327929476E06719281
chr132793267227933676E06722550
chr132786261727862677E068-47445
chr132786270127862827E068-47295
chr132786315727863207E068-46915
chr132786328027863495E068-46627
chr132786359327863682E068-46440
chr132786372127863810E068-46312
chr132786403127864074E068-46048
chr132786415927864282E068-45840
chr132786483927865145E068-44977
chr132786861927868676E068-41446
chr132786868027868737E068-41385
chr132788491027884970E068-25152
chr132788500427885142E068-24980
chr132788525627885375E068-24747
chr132792794427928122E06817822
chr132792827927928343E06818157
chr132792842227928906E06818300
chr132794983727950285E06839715
chr132786261727862677E069-47445
chr132786270127862827E069-47295
chr132786315727863207E069-46915
chr132786328027863495E069-46627
chr132786359327863682E069-46440
chr132786372127863810E069-46312
chr132786403127864074E069-46048
chr132786415927864282E069-45840
chr132786483927865145E069-44977
chr132788491027884970E069-25152
chr132788500427885142E069-24980
chr132788525627885375E069-24747
chr132792716027927799E06917038
chr132792794427928122E06917822
chr132792827927928343E06918157
chr132792842227928906E06918300
chr132793267227933676E06922550
chr132794983727950285E06939715
chr132786261727862677E071-47445
chr132786270127862827E071-47295
chr132786315727863207E071-46915
chr132786328027863495E071-46627
chr132786359327863682E071-46440
chr132786372127863810E071-46312
chr132786403127864074E071-46048
chr132786415927864282E071-45840
chr132786483927865145E071-44977
chr132788500427885142E071-24980
chr132788525627885375E071-24747
chr132792427427924402E07114152
chr132792463827924692E07114516
chr132792485627924928E07114734
chr132792498027925030E07114858
chr132792655827926652E07116436
chr132792684827927041E07116726
chr132792704627927117E07116924
chr132792842227928906E07118300
chr132793267227933676E07122550
chr132793371927933780E07123597
chr132793379227933842E07123670
chr132794983727950285E07139715
chr132786261727862677E072-47445
chr132786270127862827E072-47295
chr132786315727863207E072-46915
chr132786328027863495E072-46627
chr132786359327863682E072-46440
chr132786372127863810E072-46312
chr132786403127864074E072-46048
chr132786415927864282E072-45840
chr132787074027870968E072-39154
chr132787107027871292E072-38830
chr132788491027884970E072-25152
chr132788500427885142E072-24980
chr132788525627885375E072-24747
chr132792463827924692E07214516
chr132792655827926652E07216436
chr132792684827927041E07216726
chr132792704627927117E07216924
chr132792827927928343E07218157
chr132792842227928906E07218300
chr132786315727863207E073-46915
chr132786328027863495E073-46627
chr132786359327863682E073-46440
chr132786372127863810E073-46312
chr132786403127864074E073-46048
chr132786415927864282E073-45840
chr132786483927865145E073-44977
chr132792794427928122E07317822
chr132792827927928343E07318157
chr132786261727862677E074-47445
chr132786270127862827E074-47295
chr132786315727863207E074-46915
chr132786328027863495E074-46627
chr132786359327863682E074-46440
chr132786372127863810E074-46312
chr132786403127864074E074-46048
chr132786415927864282E074-45840
chr132786483927865145E074-44977
chr132788491027884970E074-25152
chr132788500427885142E074-24980
chr132788525627885375E074-24747
chr132792427427924402E07414152
chr132792463827924692E07414516
chr132792485627924928E07414734
chr132792498027925030E07414858
chr132792684827927041E07416726
chr132792704627927117E07416924
chr132792716027927799E07417038
chr132792794427928122E07417822
chr132792827927928343E07418157
chr132792842227928906E07418300
chr132793267227933676E07422550