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rs387906499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906499(A;A)
Make rs387906499(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position41636578
GeneCASK
is asnp
is mentioned by
dbSNPrs387906499
ebirs387906499
HLIrs387906499
Exacrs387906499
Varsomers387906499
Maprs387906499
PheGenIrs387906499
hapmaprs387906499
1000 genomesrs387906499
hgdprs387906499
ensemblrs387906499
gopubmedrs387906499
geneviewrs387906499
scholarrs387906499
googlers387906499
pharmgkbrs387906499
gwascentralrs387906499
openSNPrs387906499
23andMers387906499
23andMe allrs387906499
SNP Nexus

SNPshotrs387906499
SNPdbers387906499
MSV3drs387906499
GWAS Ctlgrs387906499
Max Magnitude0
ClinVar
Risk rs387906499(A;A)
Alt rs387906499(A;A)
Reference rs387906499(G;G)
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.41495831C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012287.24,