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rs587783357

From SNPedia

Orientationminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587783357(-;-)
Make rs587783357(-;AG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position41561582
GeneCASK
is asnp
is mentioned by
dbSNPrs587783357
ebirs587783357
HLIrs587783357
Exacrs587783357
Varsomers587783357
Maprs587783357
PheGenIrs587783357
hapmaprs587783357
1000 genomesrs587783357
hgdprs587783357
ensemblrs587783357
gopubmedrs587783357
geneviewrs587783357
scholarrs587783357
googlers587783357
pharmgkbrs587783357
gwascentralrs587783357
openSNPrs587783357
23andMers587783357
23andMe allrs587783357
SNP Nexus

SNPshotrs587783357
SNPdbers587783357
MSV3drs587783357
GWAS Ctlgrs587783357
Max Magnitude0
ClinVar
Risk rs587783357(;)
Alt rs587783357(;)
Reference rs587783357(AG;AG)
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.41420835_41420836delCT
CLNSRC
CLNACC RCV000145394.1,