rs3124743

Homo sapiens
A>G
CASP7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0496 (14830/29888,GnomAD)
G=0499 (14540/29118,TOPMED)
G=0479 (2400/5008,1000G)
A==0483 (1862/3854,ALSPAC)
A==0468 (1734/3708,TWINSUK)
chr10:113704412 (GRCh38.p7) (10q25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
66 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.113704412A>G
GRCh37.p13 chr 10NC_000010.10:g.115464171A>G

Gene: CASP7, caspase 7(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CASP7 transcript variant aNM_001227.4:c.N/AIntron Variant
CASP7 transcript variant eNM_001267056.1:c.N/AIntron Variant
CASP7 transcript variant fNM_001267057.1:c.N/AIntron Variant
CASP7 transcript variant hNM_001320911.1:c.N/AIntron Variant
CASP7 transcript variant dNM_033338.5:c.N/AIntron Variant
CASP7 transcript variant cNM_033339.4:c.N/AIntron Variant
CASP7 transcript variant bNM_033340.3:c.N/AIntron Variant
CASP7 transcript variant gNM_001267058.1:c.N/AGenic Upstream Transcript Variant
CASP7 transcript variant X2XM_006718017.3:c.N/AIntron Variant
CASP7 transcript variant X1XM_017016763.1:c.N/AIntron Variant
CASP7 transcript variant X3XM_017016764.1:c.N/AIntron Variant
CASP7 transcript variant X4XM_011540260.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.564G=0.436
1000GenomesAmericanSub694A=0.420G=0.580
1000GenomesEast AsianSub1008A=0.605G=0.395
1000GenomesEuropeSub1006A=0.485G=0.515
1000GenomesGlobalStudy-wide5008A=0.521G=0.479
1000GenomesSouth AsianSub978A=0.490G=0.510
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.483G=0.517
The Genome Aggregation DatabaseAfricanSub8692A=0.533G=0.467
The Genome Aggregation DatabaseAmericanSub838A=0.420G=0.580
The Genome Aggregation DatabaseEast AsianSub1618A=0.601G=0.399
The Genome Aggregation DatabaseEuropeSub18438A=0.473G=0.526
The Genome Aggregation DatabaseGlobalStudy-wide29888A=0.496G=0.503
The Genome Aggregation DatabaseOtherSub302A=0.480G=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.500G=0.499
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.468G=0.532
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
rs31247430.00022alcohol dependence(early age of onset)20201924
rs31247430.00032alcohol dependence20201924

eQTL of rs3124743 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 rs3124743 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 )
chr10115465227115465297E0671056
chr10115465336115465508E0671165
chr10115465563115465833E0671392
chr10115470934115471654E0676763
chr10115465227115465297E0681056
chr10115465336115465508E0681165
chr10115465563115465833E0681392
chr10115465904115466035E0681733
chr10115469967115470087E0685796
chr10115470259115470360E0686088
chr10115470669115470719E0686498
chr10115470934115471654E0686763
chr10115498798115499291E06834627
chr10115499543115499616E06835372
chr10115441380115441485E069-22686
chr10115465227115465297E0691056
chr10115465336115465508E0691165
chr10115466977115467043E0692806
chr10115467249115467484E0693078
chr10115470934115471654E0696763
chr10115498798115499291E06934627
chr10115499543115499616E06935372
chr10115470934115471654E0706763
chr10115495191115495241E07031020
chr10115495666115496070E07031495
chr10115496190115496754E07032019
chr10115441380115441485E071-22686
chr10115441627115442136E071-22035
chr10115465227115465297E0711056
chr10115465336115465508E0711165
chr10115465563115465833E0711392
chr10115465904115466035E0711733
chr10115466485115466539E0712314
chr10115466598115466673E0712427
chr10115466977115467043E0712806
chr10115470669115470719E0716498
chr10115470934115471654E0716763
chr10115498798115499291E07134627
chr10115464768115465110E072597
chr10115465125115465174E072954
chr10115465227115465297E0721056
chr10115465336115465508E0721165
chr10115465563115465833E0721392
chr10115467249115467484E0723078
chr10115470934115471654E0726763
chr10115499543115499616E07235372
chr10115465227115465297E0731056
chr10115465336115465508E0731165
chr10115465563115465833E0731392
chr10115465904115466035E0731733
chr10115466485115466539E0732314
chr10115466598115466673E0732427
chr10115466977115467043E0732806
chr10115470669115470719E0736498
chr10115470934115471654E0736763
chr10115465227115465297E0741056
chr10115465336115465508E0741165
chr10115465563115465833E0741392
chr10115470259115470360E0746088
chr10115470669115470719E0746498
chr10115470934115471654E0746763
chr10115498798115499291E07434627
chr10115495666115496070E08131495
chr10115496190115496754E08132019
chr10115495666115496070E08231495
chr10115496190115496754E08232019










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10115438390115441302E067-22869
chr10115438390115441302E068-22869
chr10115438390115441302E069-22869
chr10115438390115441302E070-22869
chr10115438390115441302E071-22869
chr10115438390115441302E072-22869
chr10115438390115441302E073-22869
chr10115438390115441302E074-22869
chr10115438390115441302E082-22869