rs2479808

Homo sapiens
C>T
CASC15 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0071 (2135/29976,GnomAD)
T=0107 (3130/29118,TOPMED)
T=0076 (382/5008,1000G)
T=0000 (0/3854,ALSPAC)
T=0001 (3/3708,TWINSUK)
chr6:21824163 (GRCh38.p7) (6p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
126 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.21824163C>T
GRCh37.p13 chr 6NC_000006.11:g.21824394C>T

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
1000GenomesAfricanSub1322C=0.727T=0.273
1000GenomesAmericanSub694C=0.970T=0.030
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.999T=0.001
1000GenomesGlobalStudy-wide5008C=0.924T=0.076
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub8714C=0.759T=0.241
The Genome Aggregation DatabaseAmericanSub838C=0.970T=0.030
The Genome Aggregation DatabaseEast AsianSub1622C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18500C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29976C=0.928T=0.071
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.892T=0.107
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.999T=0.001
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
rs24798080.000495alcohol dependence20201924

eQTL of rs2479808 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 rs2479808 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 )
chr62184518221845739E06720788
chr62184577721845974E06721383
chr62184608621846140E06721692
chr62184615821846378E06721764
chr62184655921846631E06722165
chr62184670021846843E06722306
chr62184688721847773E06722493
chr62180832121808695E068-15699
chr62180873821809347E068-15047
chr62184432921844741E06819935
chr62184495121845145E06820557
chr62184688721847773E06822493
chr62184495121845145E06920557
chr62184518221845739E06920788
chr62184577721845974E06921383
chr62184608621846140E06921692
chr62184670021846843E06922306
chr62184688721847773E06922493
chr62178043921780517E070-43877
chr62178056221780642E070-43752
chr62178096721781236E070-43158
chr62178144121781663E070-42731
chr62178174921781802E070-42592
chr62178195721782050E070-42344
chr62180231221802698E070-21696
chr62180283521802971E070-21423
chr62182745821827548E0703064
chr62182761021827996E0703216
chr62182810521828354E0703711
chr62182852221828572E0704128
chr62182907821829190E0704684
chr62182924321829342E0704849
chr62182946721829656E0705073
chr62182975721829844E0705363
chr62183091421830994E0706520
chr62183132721831426E0706933
chr62183168021831780E0707286
chr62183179621831936E0707402
chr62183197621832112E0707582
chr62183213921832464E0707745
chr62184352121844170E07019127
chr62184432921844741E07019935
chr62184495121845145E07020557
chr62184518221845739E07020788
chr62184655921846631E07022165
chr62184670021846843E07022306
chr62184688721847773E07022493
chr62187026921870848E07045875
chr62184518221845739E07120788
chr62184577721845974E07121383
chr62184608621846140E07121692
chr62184615821846378E07121764
chr62180807421808153E072-16241
chr62180820421808287E072-16107
chr62180828821808317E072-16077
chr62180832121808695E072-15699
chr62184495121845145E07220557
chr62184518221845739E07220788
chr62184577721845974E07221383
chr62184688721847773E07222493
chr62184688721847773E07322493
chr62180937821809617E074-14777
chr62184495121845145E07420557
chr62184518221845739E07420788
chr62184577721845974E07421383
chr62184670021846843E07422306
chr62184688721847773E07422493
chr62177796721778605E081-45789
chr62177868021778838E081-45556
chr62178056221780642E081-43752
chr62178096721781236E081-43158
chr62178144121781663E081-42731
chr62178174921781802E081-42592
chr62178195721782050E081-42344
chr62182684621826933E0812452
chr62182715121827222E0812757
chr62182726521827391E0812871
chr62182745821827548E0813064
chr62182761021827996E0813216
chr62182810521828354E0813711
chr62182852221828572E0814128
chr62182907821829190E0814684
chr62182924321829342E0814849
chr62183197621832112E0817582
chr62183213921832464E0817745
chr62184324321843367E08118849
chr62184352121844170E08119127
chr62184432921844741E08119935
chr62184495121845145E08120557
chr62184518221845739E08120788
chr62184608621846140E08121692
chr62184615821846378E08121764
chr62184655921846631E08122165
chr62184670021846843E08122306
chr62184688721847773E08122493
chr62184781721848657E08123423
chr62184869621848771E08124302
chr62185837421858638E08133980
chr62185873621858902E08134342
chr62177796721778605E082-45789
chr62177868021778838E082-45556
chr62178043921780517E082-43877
chr62178056221780642E082-43752
chr62178096721781236E082-43158
chr62178144121781663E082-42731
chr62178174921781802E082-42592
chr62180213421802275E082-22119
chr62180231221802698E082-21696
chr62180283521802971E082-21423
chr62182810521828354E0823711
chr62182852221828572E0824128
chr62182907821829190E0824684
chr62182924321829342E0824849
chr62182946721829656E0825073
chr62182975721829844E0825363
chr62183132721831426E0826933
chr62183168021831780E0827286
chr62184324321843367E08218849
chr62184352121844170E08219127
chr62184670021846843E08222306
chr62184781721848657E08223423
chr62185762621857691E08233232
chr62185837421858638E08233980
chr62185873621858902E08234342
chr62186940521870134E08245011
chr62187026921870848E08245875