rs726730

Homo sapiens
A>G
CASC15 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0398 (11925/29914,GnomAD)
G=0360 (10482/29118,TOPMED)
G=0322 (1613/5008,1000G)
A==0430 (1657/3854,ALSPAC)
A==0436 (1616/3708,TWINSUK)
chr6:21995879 (GRCh38.p7) (6p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
113 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.21995879A>G
GRCh37.p13 chr 6NC_000006.11:g.21996108A>G

Gene: CASC15, cancer susceptibility candidate 15 (non-protein coding)(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CASC15 transcriptNR_015410.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.903G=0.097
1000GenomesAmericanSub694A=0.650G=0.350
1000GenomesEast AsianSub1008A=0.796G=0.204
1000GenomesEuropeSub1006A=0.493G=0.507
1000GenomesGlobalStudy-wide5008A=0.678G=0.322
1000GenomesSouth AsianSub978A=0.470G=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.430G=0.570
The Genome Aggregation DatabaseAfricanSub8716A=0.835G=0.165
The Genome Aggregation DatabaseAmericanSub834A=0.650G=0.350
The Genome Aggregation DatabaseEast AsianSub1614A=0.789G=0.211
The Genome Aggregation DatabaseEuropeSub18448A=0.472G=0.527
The Genome Aggregation DatabaseGlobalStudy-wide29914A=0.601G=0.398
The Genome Aggregation DatabaseOtherSub302A=0.620G=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.640G=0.360
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.436G=0.564
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs7267305.73E-05alcohol consumption23953852

eQTL of rs726730 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 rs726730 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 )
chr62195091021951926E068-44182
chr62195194921952206E068-43902
chr62198706921987266E068-8842
chr62198727821987402E068-8706
chr62202859122028990E06832483
chr62202902922029334E06832921
chr62202938022029854E06833272
chr62204347222044081E06847364
chr62195091021951926E070-44182
chr62195194921952206E070-43902
chr62195223721952290E070-43818
chr62196762621967753E070-28355
chr62196780121967907E070-28201
chr62196795021968144E070-27964
chr62197114121971546E070-24562
chr62197180521972052E070-24056
chr62198473021985143E070-10965
chr62198518621985298E070-10810
chr62199134221991637E070-4471
chr62199178421991847E070-4261
chr62199190621991956E070-4152
chr62199227021992440E070-3668
chr62199247521992691E070-3417
chr62199346121993534E070-2574
chr62199762021998207E0701512
chr62199844621998564E0702338
chr62199871721999915E0702609
chr62202401822024771E07027910
chr62202483322024883E07028725
chr62202535522026633E07029247
chr62202670822026777E07030600
chr62202902922029334E07032921
chr62202938022029854E07033272
chr62195091021951926E071-44182
chr62204347222044081E07247364
chr62195091021951926E073-44182
chr62195194921952206E073-43902
chr62198706921987266E074-8842
chr62198727821987402E074-8706
chr62202902922029334E07432921
chr62202938022029854E07433272
chr62195091021951926E081-44182
chr62195194921952206E081-43902
chr62195373021953867E081-42241
chr62195398421954994E081-41114
chr62195533621955606E081-40502
chr62196780121967907E081-28201
chr62196795021968144E081-27964
chr62197114121971546E081-24562
chr62197180521972052E081-24056
chr62197206921972172E081-23936
chr62197221421972294E081-23814
chr62197758621977833E081-18275
chr62198449921984729E081-11379
chr62198473021985143E081-10965
chr62198518621985298E081-10810
chr62198706921987266E081-8842
chr62198727821987402E081-8706
chr62198747821988184E081-7924
chr62199070021991202E081-4906
chr62199134221991637E081-4471
chr62199178421991847E081-4261
chr62199190621991956E081-4152
chr62199686821997491E081760
chr62199762021998207E0811512
chr62199844621998564E0812338
chr62199871721999915E0812609
chr62200041322000562E0814305
chr62200069822000762E0814590
chr62200099822001048E0814890
chr62200146122001862E0815353
chr62200189922002065E0815791
chr62202401822024771E08127910
chr62202902922029334E08132921
chr62202938022029854E08133272
chr62202989722030019E08133789
chr62203002022030108E08133912
chr62194942521950071E082-46037
chr62195290621952966E082-43142
chr62195300121953045E082-43063
chr62195398421954994E082-41114
chr62195533621955606E082-40502
chr62195701321957188E082-38920
chr62196633621966633E082-29475
chr62196738221967504E082-28604
chr62196762621967753E082-28355
chr62196780121967907E082-28201
chr62196795021968144E082-27964
chr62197758621977833E082-18275
chr62198518621985298E082-10810
chr62199134221991637E082-4471
chr62199178421991847E082-4261
chr62199190621991956E082-4152
chr62199227021992440E082-3668
chr62199247521992691E082-3417
chr62199589021996382E0820
chr62199762021998207E0821512
chr62199844621998564E0822338
chr62199871721999915E0822609
chr62200041322000562E0824305
chr62200069822000762E0824590
chr62200099822001048E0824890
chr62200146122001862E0825353
chr62200189922002065E0825791
chr62200355322003814E0827445
chr62202401822024771E08227910
chr62202535522026633E08229247
chr62202670822026777E08230600
chr62202859122028990E08232483
chr62202902922029334E08232921
chr62202938022029854E08233272
chr62202989722030019E08233789
chr62203002022030108E08233912