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rs727503840

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503840(A;A)
Make rs727503840(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position41922934
GeneCASK
is asnp
is mentioned by
dbSNPrs727503840
ebirs727503840
HLIrs727503840
Exacrs727503840
Varsomers727503840
Maprs727503840
PheGenIrs727503840
hapmaprs727503840
1000 genomesrs727503840
hgdprs727503840
ensemblrs727503840
gopubmedrs727503840
geneviewrs727503840
scholarrs727503840
googlers727503840
pharmgkbrs727503840
gwascentralrs727503840
openSNPrs727503840
23andMers727503840
23andMe allrs727503840
SNP Nexus

SNPshotrs727503840
SNPdbers727503840
MSV3drs727503840
GWAS Ctlgrs727503840
Max Magnitude0
ClinVar
Risk rs727503840(A;A)
Alt rs727503840(A;A)
Reference rs727503840(G;G)
Significance Probable-Pathogenic
Disease not provided Mental retardation and microcephaly with pontine and cerebellar hypoplasia FG syndrome 4
Variation info
Gene CASK
CLNDBN not provided Mental retardation and microcephaly with pontine and cerebellar hypoplasia FG syndrome 4
Reversed 1
HGVS NC_000023.10:g.41782187C>T
CLNSRC
CLNACC RCV000152930.2, RCV000173304.1, RCV000173305.1,