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rs587783371

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783371(C;T)
Make rs587783371(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position41636613
GeneCASK
is asnp
is mentioned by
dbSNPrs587783371
ebirs587783371
HLIrs587783371
Exacrs587783371
Varsomers587783371
Maprs587783371
PheGenIrs587783371
hapmaprs587783371
1000 genomesrs587783371
hgdprs587783371
ensemblrs587783371
gopubmedrs587783371
geneviewrs587783371
scholarrs587783371
googlers587783371
pharmgkbrs587783371
gwascentralrs587783371
openSNPrs587783371
23andMers587783371
23andMe allrs587783371
SNP Nexus

SNPshotrs587783371
SNPdbers587783371
MSV3drs587783371
GWAS Ctlgrs587783371
Max Magnitude0
ClinVar
Risk rs587783371(T;T)
Alt rs587783371(T;T)
Reference rs587783371(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.41495866G>A
CLNSRC
CLNACC RCV000145416.1,