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rs398122844

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122844(A;G)
Make rs398122844(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position41534946
GeneCASK
is asnp
is mentioned by
dbSNPrs398122844
ebirs398122844
HLIrs398122844
Exacrs398122844
Varsomers398122844
Maprs398122844
PheGenIrs398122844
hapmaprs398122844
1000 genomesrs398122844
hgdprs398122844
ensemblrs398122844
gopubmedrs398122844
geneviewrs398122844
scholarrs398122844
googlers398122844
pharmgkbrs398122844
gwascentralrs398122844
openSNPrs398122844
23andMers398122844
23andMe allrs398122844
SNP Nexus

SNPshotrs398122844
SNPdbers398122844
MSV3drs398122844
GWAS Ctlgrs398122844
Max Magnitude0
ClinVar
Risk rs398122844(G;G)
Alt rs398122844(G;G)
Reference rs398122844(A;A)
Significance Pathogenic
Disease FG syndrome 4 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Variation info
Gene CASK
CLNDBN FG syndrome 4 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Reversed 1
HGVS NC_000023.10:g.41394199T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022829.11, RCV000193589.1,