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rs387906704

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906704(C;T)
Make rs387906704(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position41745564
GeneCASK
is asnp
is mentioned by
dbSNPrs387906704
ClinGenrs387906704
ebirs387906704
HLIrs387906704
Exacrs387906704
Varsomers387906704
Maprs387906704
PheGenIrs387906704
hapmaprs387906704
1000 genomesrs387906704
hgdprs387906704
ensemblrs387906704
gopubmedrs387906704
geneviewrs387906704
scholarrs387906704
googlers387906704
pharmgkbrs387906704
gwascentralrs387906704
openSNPrs387906704
23andMers387906704
23andMe allrs387906704
SNP Nexus

SNPshotrs387906704
SNPdbers387906704
MSV3drs387906704
GWAS Ctlgrs387906704
Max Magnitude0
ClinVar
Risk rs387906704(T;T)
Alt rs387906704(T;T)
Reference Rs387906704(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.41604817G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022831.22,