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rs863224854

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224854(A;G)
Make rs863224854(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position41531211
GeneCASK
is asnp
is mentioned by
dbSNPrs863224854
ebirs863224854
HLIrs863224854
Exacrs863224854
Varsomers863224854
Maprs863224854
PheGenIrs863224854
hapmaprs863224854
1000 genomesrs863224854
hgdprs863224854
ensemblrs863224854
gopubmedrs863224854
geneviewrs863224854
scholarrs863224854
googlers863224854
pharmgkbrs863224854
gwascentralrs863224854
openSNPrs863224854
23andMers863224854
23andMe allrs863224854
SNP Nexus

SNPshotrs863224854
SNPdbers863224854
MSV3drs863224854
GWAS Ctlgrs863224854
Max Magnitude0
ClinVar
Risk rs863224854(G;G)
Alt rs863224854(G;G)
Reference rs863224854(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.41390464T>C
CLNSRC
CLNACC RCV000198342.1,