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rs137852815

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852815(C;T)
Make rs137852815(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position41553843
GeneCASK
is asnp
is mentioned by
dbSNPrs137852815
ebirs137852815
HLIrs137852815
Exacrs137852815
Varsomers137852815
Maprs137852815
PheGenIrs137852815
hapmaprs137852815
1000 genomesrs137852815
hgdprs137852815
ensemblrs137852815
gopubmedrs137852815
geneviewrs137852815
scholarrs137852815
googlers137852815
pharmgkbrs137852815
gwascentralrs137852815
openSNPrs137852815
23andMers137852815
23andMe allrs137852815
SNP Nexus

SNPshotrs137852815
SNPdbers137852815
MSV3drs137852815
GWAS Ctlgrs137852815
Max Magnitude0
OMIM300172
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852815(T;T)
Alt rs137852815(T;T)
Reference rs137852815(C;C)
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.41413096G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012286.24,