rs12326991

Homo sapiens
T>C / T>G
None
Check p-value
SNV (Single Nucleotide Variation)
C=0295 (8847/29902,GnomAD)
C=0268 (7805/29118,TOPMED)
C=0281 (1407/5008,1000G)
C=0401 (1547/3854,ALSPAC)
C=0381 (1413/3708,TWINSUK)
chr18:78418452 (GRCh38.p7) (18q23)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.78418452T>C
GRCh38.p7 chr 18NC_000018.10:g.78418452T>G
GRCh37.p13 chr 18NC_000018.9:g.76178452T>C
GRCh37.p13 chr 18NC_000018.9:g.76178452T>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.908C=0.092
1000GenomesAmericanSub694T=0.710C=0.290
1000GenomesEast AsianSub1008T=0.638C=0.362
1000GenomesEuropeSub1006T=0.628C=0.372
1000GenomesGlobalStudy-wide5008T=0.719C=0.281
1000GenomesSouth AsianSub978T=0.650C=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.599C=0.401
The Genome Aggregation DatabaseAfricanSub8714T=0.870G=0.000
The Genome Aggregation DatabaseAmericanSub836T=0.740G=0.00,
The Genome Aggregation DatabaseEast AsianSub1612T=0.612G=0.000
The Genome Aggregation DatabaseEuropeSub18438T=0.633G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29902T=0.704G=0.000
The Genome Aggregation DatabaseOtherSub302T=0.650G=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.732C=0.268
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.619C=0.381
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs123269910.000762alcohol dependence20201924

eQTL of rs12326991 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 rs12326991 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr187685648676856582E06733886
chr187685659876856664E06733998
chr187683730276837489E06814702
chr187683791976837979E06815319
chr187683802576838075E06815425
chr187683814576838195E06815545
chr187685328076853370E06830680
chr187685369276853742E06831092
chr187685413276854287E06831532
chr187686785476867936E06845254
chr187686807776868169E06845477
chr187686849976868549E06845899
chr187686861276868663E06846012
chr187685413276854287E06931532
chr187686785476867936E06945254
chr187686807776868169E06945477
chr187686849976868549E06945899
chr187686861276868663E06946012
chr187686871676868811E06946116
chr187680597076806024E070-16576
chr187680630876806399E070-16201
chr187683107976831144E0708479
chr187683116276831364E0708562
chr187683138776831536E0708787
chr187683730276837489E07114702
chr187683791976837979E07115319
chr187683802576838075E07115425
chr187683814576838195E07115545
chr187684509076845260E07122490
chr187684543276845526E07122832
chr187684567876845832E07123078
chr187685294976853130E07130349
chr187685328076853370E07130680
chr187685369276853742E07131092
chr187685413276854287E07131532
chr187686849976868549E07145899
chr187686861276868663E07146012
chr187686871676868811E07146116
chr187683107976831144E0728479
chr187683116276831364E0728562
chr187683138776831536E0728787
chr187686785476867936E07245254
chr187686807776868169E07245477
chr187686849976868549E07245899
chr187686861276868663E07246012
chr187686871676868811E07246116
chr187683107976831144E0738479
chr187683116276831364E0738562
chr187683138776831536E0738787
chr187683154976831816E0738949
chr187683107976831144E0748479
chr187683116276831364E0748562
chr187685294976853130E07430349
chr187685328076853370E07430680
chr187685369276853742E07431092
chr187685413276854287E07431532
chr187685446376854513E07431863
chr187685451776854582E07431917
chr187685477076854820E07432170
chr187685487176854996E07432271
chr187685517376855223E07432573
chr187685527076855473E07432670
chr187685550676855722E07432906
chr187685599276856137E07433392
chr187685648676856582E07433886
chr187685659876856664E07433998
chr187686785476867936E07445254
chr187686807776868169E07445477
chr187686849976868549E07445899
chr187686861276868663E07446012
chr187686871676868811E07446116
chr187683107976831144E0818479
chr187683116276831364E0818562









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr187682811076830565E0675510
chr187682811076830565E0685510
chr187682811076830565E0695510
chr187682811076830565E0705510
chr187682811076830565E0715510
chr187682811076830565E0725510
chr187682811076830565E0735510
chr187682811076830565E0745510
chr187682811076830565E0825510