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rs387906705

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906705(C;T)
Make rs387906705(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position41561588
GeneCASK
is asnp
is mentioned by
dbSNPrs387906705
ebirs387906705
HLIrs387906705
Exacrs387906705
Varsomers387906705
Maprs387906705
PheGenIrs387906705
hapmaprs387906705
1000 genomesrs387906705
hgdprs387906705
ensemblrs387906705
gopubmedrs387906705
geneviewrs387906705
scholarrs387906705
googlers387906705
pharmgkbrs387906705
gwascentralrs387906705
openSNPrs387906705
23andMers387906705
23andMe allrs387906705
SNP Nexus

SNPshotrs387906705
SNPdbers387906705
MSV3drs387906705
GWAS Ctlgrs387906705
Max Magnitude0
ClinVar
Risk rs387906705(T;T)
Alt rs387906705(T;T)
Reference rs387906705(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.41420841G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022833.13,