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rs587783368

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783368(A;A)
Make rs587783368(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position41665276
GeneCASK
is asnp
is mentioned by
dbSNPrs587783368
ebirs587783368
HLIrs587783368
Exacrs587783368
Varsomers587783368
Maprs587783368
PheGenIrs587783368
hapmaprs587783368
1000 genomesrs587783368
hgdprs587783368
ensemblrs587783368
gopubmedrs587783368
geneviewrs587783368
scholarrs587783368
googlers587783368
pharmgkbrs587783368
gwascentralrs587783368
openSNPrs587783368
23andMers587783368
23andMe allrs587783368
SNP Nexus

SNPshotrs587783368
SNPdbers587783368
MSV3drs587783368
GWAS Ctlgrs587783368
Max Magnitude0
ClinVar
Risk rs587783368(A;A)
Alt rs587783368(A;A)
Reference rs587783368(G;G)
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.41524529C>T
CLNSRC
CLNACC RCV000145411.1,