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rs794727270

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727270(C;T)
Make rs794727270(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position41853208
GeneCASK
is asnp
is mentioned by
dbSNPrs794727270
ebirs794727270
HLIrs794727270
Exacrs794727270
Varsomers794727270
Maprs794727270
PheGenIrs794727270
hapmaprs794727270
1000 genomesrs794727270
hgdprs794727270
ensemblrs794727270
gopubmedrs794727270
geneviewrs794727270
scholarrs794727270
googlers794727270
pharmgkbrs794727270
gwascentralrs794727270
openSNPrs794727270
23andMers794727270
23andMe allrs794727270
SNP Nexus

SNPshotrs794727270
SNPdbers794727270
MSV3drs794727270
GWAS Ctlgrs794727270
Max Magnitude0
ClinVar
Risk rs794727270(T;T)
Alt rs794727270(T;T)
Reference rs794727270(C;C)
Significance Pathogenic
Disease Mental retardation and microcephaly with pontine and cerebellar hypoplasia FG syndrome 4
Variation info
Gene CASK
CLNDBN Mental retardation and microcephaly with pontine and cerebellar hypoplasia FG syndrome 4
Reversed 1
HGVS NC_000023.10:g.41712461G>A
CLNSRC
CLNACC RCV000175755.1, RCV000175756.1,