rs10849971

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0042 (1277/29980,GnomAD)
G=0025 (754/29118,TOPMED)
G=0153 (764/5008,1000G)
G=0003 (13/3854,ALSPAC)
G=0003 (10/3708,TWINSUK)
chr12:111813393 (GRCh38.p7) (12q24.12)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.111813393A>G
GRCh37.p13 chr 12NC_000012.11:g.112251197A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.997G=0.003
1000GenomesAmericanSub694A=0.860G=0.140
1000GenomesEast AsianSub1008A=0.423G=0.577
1000GenomesEuropeSub1006A=0.997G=0.003
1000GenomesGlobalStudy-wide5008A=0.847G=0.153
1000GenomesSouth AsianSub978A=0.920G=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.997G=0.003
The Genome Aggregation DatabaseAfricanSub8726A=0.994G=0.006
The Genome Aggregation DatabaseAmericanSub838A=0.820G=0.180
The Genome Aggregation DatabaseEast AsianSub1610A=0.372G=0.628
The Genome Aggregation DatabaseEuropeSub18504A=0.996G=0.003
The Genome Aggregation DatabaseGlobalStudy-wide29980A=0.957G=0.042
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.974G=0.025
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.997G=0.003
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
rs108499710.000178alcohol consumption (maxi-drinks)24277619

eQTL of rs10849971 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 rs10849971 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 )
chr12112211077112211234E067-39963
chr12112211239112211372E067-39825
chr12112211459112214305E067-36892
chr12112214755112214834E067-36363
chr12112214875112215915E067-35282
chr12112226052112226466E067-24731
chr12112250781112251588E0670
chr12112277752112277915E06726555
chr12112278075112278149E06726878
chr12112281800112281856E06730603
chr12112282228112282278E06731031
chr12112282350112282404E06731153
chr12112282773112282823E06731576
chr12112282990112283030E06731793
chr12112283223112283273E06732026
chr12112283296112283369E06732099
chr12112283860112284229E06732663
chr12112206883112207004E068-44193
chr12112207057112207139E068-44058
chr12112207231112207372E068-43825
chr12112211077112211234E068-39963
chr12112211239112211372E068-39825
chr12112211459112214305E068-36892
chr12112214755112214834E068-36363
chr12112250781112251588E0680
chr12112281800112281856E06830603
chr12112282228112282278E06831031
chr12112282350112282404E06831153
chr12112282773112282823E06831576
chr12112282990112283030E06831793
chr12112206883112207004E069-44193
chr12112211077112211234E069-39963
chr12112211239112211372E069-39825
chr12112211459112214305E069-36892
chr12112226052112226466E069-24731
chr12112250781112251588E0690
chr12112277752112277915E06926555
chr12112278075112278149E06926878
chr12112282350112282404E06931153
chr12112282773112282823E06931576
chr12112282990112283030E06931793
chr12112206883112207004E070-44193
chr12112256486112256526E0705289
chr12112257111112257217E0705914
chr12112257250112258148E0706053
chr12112258245112258347E0707048
chr12112277649112277701E07026452
chr12112277752112277915E07026555
chr12112281800112281856E07030603
chr12112282228112282278E07031031
chr12112282350112282404E07031153
chr12112282773112282823E07031576
chr12112203436112203528E071-47669
chr12112203536112203790E071-47407
chr12112206883112207004E071-44193
chr12112211077112211234E071-39963
chr12112211239112211372E071-39825
chr12112211459112214305E071-36892
chr12112214755112214834E071-36363
chr12112226052112226466E071-24731
chr12112250781112251588E0710
chr12112281800112281856E07130603
chr12112282228112282278E07131031
chr12112282350112282404E07131153
chr12112282773112282823E07131576
chr12112282990112283030E07131793
chr12112206883112207004E072-44193
chr12112207057112207139E072-44058
chr12112211077112211234E072-39963
chr12112211239112211372E072-39825
chr12112211459112214305E072-36892
chr12112214755112214834E072-36363
chr12112226052112226466E072-24731
chr12112250781112251588E0720
chr12112281800112281856E07230603
chr12112282228112282278E07231031
chr12112282350112282404E07231153
chr12112282773112282823E07231576
chr12112282990112283030E07231793
chr12112206883112207004E073-44193
chr12112207057112207139E073-44058
chr12112207231112207372E073-43825
chr12112207485112207617E073-43580
chr12112207987112208189E073-43008
chr12112211077112211234E073-39963
chr12112211239112211372E073-39825
chr12112211459112214305E073-36892
chr12112214755112214834E073-36363
chr12112214875112215915E073-35282
chr12112244239112244304E073-6893
chr12112250781112251588E0730
chr12112277649112277701E07326452
chr12112277752112277915E07326555
chr12112278075112278149E07326878
chr12112282350112282404E07331153
chr12112282773112282823E07331576
chr12112206883112207004E074-44193
chr12112207231112207372E074-43825
chr12112207485112207617E074-43580
chr12112207987112208189E074-43008
chr12112211077112211234E074-39963
chr12112211239112211372E074-39825
chr12112211459112214305E074-36892
chr12112214755112214834E074-36363
chr12112214875112215915E074-35282
chr12112225114112225224E074-25973
chr12112225257112225450E074-25747
chr12112250781112251588E0740
chr12112281800112281856E07430603
chr12112282228112282278E07431031
chr12112282350112282404E07431153
chr12112282773112282823E07431576
chr12112282990112283030E07431793
chr12112283860112284229E07432663
chr12112277649112277701E08126452
chr12112277752112277915E08126555
chr12112278075112278149E08126878
chr12112281800112281856E08130603
chr12112282228112282278E08131031
chr12112282350112282404E08131153
chr12112282773112282823E08131576
chr12112272767112273138E08221570
chr12112277409112277512E08226212
chr12112281800112281856E08230603
chr12112282228112282278E08231031
chr12112282350112282404E08231153
chr12112282773112282823E08231576
chr12112282990112283030E08231793
chr12112283223112283273E08232026
chr12112283296112283369E08232099










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12112204096112206016E067-45181
chr12112278853112281024E06727656
chr12112204096112206016E068-45181
chr12112278853112281024E06827656
chr12112204096112206016E069-45181
chr12112278853112281024E06927656
chr12112204096112206016E070-45181
chr12112278853112281024E07027656
chr12112204096112206016E071-45181
chr12112278853112281024E07127656
chr12112204096112206016E072-45181
chr12112278853112281024E07227656
chr12112204096112206016E073-45181
chr12112278853112281024E07327656
chr12112204096112206016E074-45181
chr12112278853112281024E07427656
chr12112204096112206016E081-45181
chr12112204096112206016E082-45181
chr12112278853112281024E08227656