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rs587783366

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783366(A;T)
Make rs587783366(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position41671532
GeneCASK
is asnp
is mentioned by
dbSNPrs587783366
ebirs587783366
HLIrs587783366
Exacrs587783366
Varsomers587783366
Maprs587783366
PheGenIrs587783366
hapmaprs587783366
1000 genomesrs587783366
hgdprs587783366
ensemblrs587783366
gopubmedrs587783366
geneviewrs587783366
scholarrs587783366
googlers587783366
pharmgkbrs587783366
gwascentralrs587783366
openSNPrs587783366
23andMers587783366
23andMe allrs587783366
SNP Nexus

SNPshotrs587783366
SNPdbers587783366
MSV3drs587783366
GWAS Ctlgrs587783366
Max Magnitude0
ClinVar
Risk rs587783366(T;T)
Alt rs587783366(T;T)
Reference rs587783366(A;A)
Significance Pathogenic
Disease Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Variation info
Gene CASK
CLNDBN Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Reversed 1
HGVS NC_000023.10:g.41530785T>A
CLNSRC
CLNACC RCV000145406.1,