rs2208989

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0119 (3595/29978,GnomAD)
C==0100 (2932/29116,TOPMED)
C==0084 (419/5008,1000G)
C==0150 (577/3854,ALSPAC)
C==0146 (541/3708,TWINSUK)
chr13:52953838 (GRCh38.p7) (13q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
158 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.52953838C>T
GRCh37.p13 chr 13NC_000013.10:g.53527973C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.045T=0.955
1000GenomesAmericanSub694C=0.130T=0.870
1000GenomesEast AsianSub1008C=0.037T=0.963
1000GenomesEuropeSub1006C=0.152T=0.848
1000GenomesGlobalStudy-wide5008C=0.084T=0.916
1000GenomesSouth AsianSub978C=0.080T=0.920
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.150T=0.850
The Genome Aggregation DatabaseAfricanSub8728C=0.062T=0.938
The Genome Aggregation DatabaseAmericanSub838C=0.140T=0.860
The Genome Aggregation DatabaseEast AsianSub1616C=0.055T=0.945
The Genome Aggregation DatabaseEuropeSub18494C=0.151T=0.848
The Genome Aggregation DatabaseGlobalStudy-wide29978C=0.119T=0.880
The Genome Aggregation DatabaseOtherSub302C=0.140T=0.860
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.100T=0.899
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.146T=0.854
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
rs22089890.00062alcohol dependence24277619

eQTL of rs2208989 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 rs2208989 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 )
chr135350395653504019E067-23954
chr135350409253504328E067-23645
chr135350629653506437E067-21536
chr135352438953524439E067-3534
chr135352475153524954E067-3019
chr135347901553479165E068-48808
chr135347923653479293E068-48680
chr135347937153479537E068-48436
chr135347970753479768E068-48205
chr135349594353496068E068-31905
chr135349934953500753E068-27220
chr135350395653504019E068-23954
chr135350409253504328E068-23645
chr135350524453505615E068-22358
chr135350572753506254E068-21719
chr135350629653506437E068-21536
chr135350659253506659E068-21314
chr135350677053507079E068-20894
chr135352139953521449E068-6524
chr135352145953521519E068-6454
chr135352157153521625E068-6348
chr135352172753521815E068-6158
chr135352189953522908E068-5065
chr135352383853524202E068-3771
chr135352438953524439E068-3534
chr135352959953530131E0681626
chr135350514753505207E069-22766
chr135350524453505615E069-22358
chr135350572753506254E069-21719
chr135350629653506437E069-21536
chr135350659253506659E069-21314
chr135352172753521815E069-6158
chr135352189953522908E069-5065
chr135352438953524439E069-3534
chr135352475153524954E069-3019
chr135354988853549943E06921915
chr135347851953478838E070-49135
chr135347901553479165E070-48808
chr135347923653479293E070-48680
chr135347937153479537E070-48436
chr135347970753479768E070-48205
chr135347996853480022E070-47951
chr135349840553499132E070-28841
chr135349922053499345E070-28628
chr135349934953500753E070-27220
chr135350409253504328E070-23645
chr135350506453505114E070-22859
chr135350514753505207E070-22766
chr135350524453505615E070-22358
chr135350572753506254E070-21719
chr135350629653506437E070-21536
chr135350659253506659E070-21314
chr135352172753521815E070-6158
chr135352189953522908E070-5065
chr135354880653548895E07020833
chr135354920353549709E07021230
chr135354988853549943E07021915
chr135355002253550215E07022049
chr135347923653479293E071-48680
chr135347937153479537E071-48436
chr135347970753479768E071-48205
chr135347996853480022E071-47951
chr135352172753521815E071-6158
chr135352383853524202E071-3771
chr135352438953524439E071-3534
chr135350409253504328E072-23645
chr135350572753506254E072-21719
chr135350629653506437E072-21536
chr135350659253506659E072-21314
chr135352331953523497E072-4476
chr135352350653523686E072-4287
chr135352383853524202E072-3771
chr135352438953524439E072-3534
chr135352475153524954E072-3019
chr135350506453505114E073-22859
chr135350514753505207E073-22766
chr135350524453505615E073-22358
chr135350572753506254E073-21719
chr135350629653506437E073-21536
chr135350659253506659E073-21314
chr135350677053507079E073-20894
chr135350713653507307E073-20666
chr135352172753521815E073-6158
chr135352189953522908E073-5065
chr135352350653523686E073-4287
chr135347901553479165E074-48808
chr135347923653479293E074-48680
chr135347937153479537E074-48436
chr135347970753479768E074-48205
chr135349594353496068E074-31905
chr135350395653504019E074-23954
chr135350409253504328E074-23645
chr135352139953521449E074-6524
chr135352145953521519E074-6454
chr135352157153521625E074-6348
chr135352172753521815E074-6158
chr135352331953523497E074-4476
chr135352350653523686E074-4287
chr135347851953478838E081-49135
chr135347901553479165E081-48808
chr135347923653479293E081-48680
chr135347937153479537E081-48436
chr135347996853480022E081-47951
chr135348033353481190E081-46783
chr135349673353497080E081-30893
chr135349723853497298E081-30675
chr135350506453505114E081-22859
chr135350514753505207E081-22766
chr135350524453505615E081-22358
chr135350572753506254E081-21719
chr135350629653506437E081-21536
chr135350659253506659E081-21314
chr135350677053507079E081-20894
chr135350713653507307E081-20666
chr135350733853507634E081-20339
chr135350770353507852E081-20121
chr135350791953507988E081-19985
chr135350803553508548E081-19425
chr135350858353508683E081-19290
chr135352157153521625E081-6348
chr135352172753521815E081-6158
chr135352189953522908E081-5065
chr135354340053543472E08115427
chr135354920353549709E08121230
chr135354988853549943E08121915
chr135355002253550215E08122049
chr135355043853550570E08122465
chr135355069953550778E08122726
chr135347851953478838E082-49135
chr135347970753479768E082-48205
chr135347996853480022E082-47951
chr135348033353481190E082-46783
chr135350506453505114E082-22859
chr135350514753505207E082-22766
chr135350524453505615E082-22358
chr135350572753506254E082-21719
chr135350629653506437E082-21536
chr135350659253506659E082-21314
chr135350677053507079E082-20894
chr135350713653507307E082-20666
chr135350733853507634E082-20339
chr135351461353514663E082-13310
chr135351476453515048E082-12925
chr135352189953522908E082-5065
chr135352383853524202E082-3771
chr135354315753543291E08215184
chr135354329453543392E08215321
chr135354340053543472E08215427
chr135354364353543770E08215670
chr135354578153545925E08217808
chr135354602053546070E08218047
chr135354609953546459E08218126
chr135354920353549709E08221230
chr135354988853549943E08221915
chr135355002253550215E08222049
chr135355043853550570E08222465
chr135355069953550778E08222726
chr135355106053551119E08223087