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rs749742837

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs749742837(C;C)
Make rs749742837(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position41531135
GeneCASK
is asnp
is mentioned by
dbSNPrs749742837
ebirs749742837
HLIrs749742837
Exacrs749742837
Varsomers749742837
Maprs749742837
PheGenIrs749742837
hapmaprs749742837
1000 genomesrs749742837
hgdprs749742837
ensemblrs749742837
gopubmedrs749742837
geneviewrs749742837
scholarrs749742837
googlers749742837
pharmgkbrs749742837
gwascentralrs749742837
openSNPrs749742837
23andMers749742837
23andMe allrs749742837
SNP Nexus

SNPshotrs749742837
SNPdbers749742837
MSV3drs749742837
GWAS Ctlgrs749742837
Max Magnitude0
ClinVar
Risk rs749742837(C;C)
Alt rs749742837(C;C)
Reference rs749742837(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 0
HGVS NC_000023.10:g.41390388G>A
CLNSRC
CLNACC RCV000193508.1,