rs10485705

Homo sapiens
G>T
CASC20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0202 (6070/29920,GnomAD)
T=0171 (4998/29118,TOPMED)
T=0144 (723/5008,1000G)
T=0267 (1029/3854,ALSPAC)
T=0275 (1020/3708,TWINSUK)
chr20:6487614 (GRCh38.p7) (20p12.3)
AD
GWASdb2
2   publication(s)
See rs on genome
4 Enhancers around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.6487614G>T
GRCh37.p13 chr 20NC_000020.10:g.6468261G>T

Gene: CASC20, cancer susceptibility candidate 20 (non-protein coding)(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CASC20 transcriptNR_109953.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.992T=0.008
1000GenomesAmericanSub694G=0.800T=0.200
1000GenomesEast AsianSub1008G=0.886T=0.114
1000GenomesEuropeSub1006G=0.739T=0.261
1000GenomesGlobalStudy-wide5008G=0.856T=0.144
1000GenomesSouth AsianSub978G=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.733T=0.267
The Genome Aggregation DatabaseAfricanSub8726G=0.951T=0.049
The Genome Aggregation DatabaseAmericanSub836G=0.750T=0.250
The Genome Aggregation DatabaseEast AsianSub1606G=0.876T=0.124
The Genome Aggregation DatabaseEuropeSub18450G=0.720T=0.279
The Genome Aggregation DatabaseGlobalStudy-wide29920G=0.797T=0.202
The Genome Aggregation DatabaseOtherSub302G=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.828T=0.171
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.725T=0.275
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
17186469Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.Bergmann CAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs104857050.00043alcohol dependence20201924

eQTL of rs10485705 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 rs10485705 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 )
chr2064699836471086E0701722
chr2064727216472798E0714460
chr2064722646472381E0724003
chr2064725016472551E0724240



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2064728216473703E0674560
chr2065140046515204E06745743
chr2064728216473703E0684560
chr2065140046515204E06845743
chr2064728216473703E0694560
chr2065140046515204E06945743
chr2065140046515204E07045743
chr2064728216473703E0714560
chr2065140046515204E07145743
chr2064728216473703E0724560
chr2065140046515204E07245743
chr2064728216473703E0734560
chr2065140046515204E07345743
chr2064728216473703E0744560
chr2065140046515204E07445743
chr2065140046515204E08145743
chr2065140046515204E08245743