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rs587783361

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783361(C;T)
Make rs587783361(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position41542772
GeneCASK
is asnp
is mentioned by
dbSNPrs587783361
ebirs587783361
HLIrs587783361
Exacrs587783361
Varsomers587783361
Maprs587783361
PheGenIrs587783361
hapmaprs587783361
1000 genomesrs587783361
hgdprs587783361
ensemblrs587783361
gopubmedrs587783361
geneviewrs587783361
scholarrs587783361
googlers587783361
pharmgkbrs587783361
gwascentralrs587783361
openSNPrs587783361
23andMers587783361
23andMe allrs587783361
SNP Nexus

SNPshotrs587783361
SNPdbers587783361
MSV3drs587783361
GWAS Ctlgrs587783361
Max Magnitude0
ClinVar
Risk rs587783361(T;T)
Alt rs587783361(T;T)
Reference rs587783361(C;C)
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.41402025G>A
CLNSRC
CLNACC RCV000145398.1,