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rs797045433

From SNPedia

Orientationminus
Make rs797045433(-;-)
Make rs797045433(-;AG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position41524008
GeneCASK
is asnp
is mentioned by
dbSNPrs797045433
ebirs797045433
HLIrs797045433
Exacrs797045433
Varsomers797045433
Maprs797045433
PheGenIrs797045433
hapmaprs797045433
1000 genomesrs797045433
hgdprs797045433
ensemblrs797045433
gopubmedrs797045433
geneviewrs797045433
scholarrs797045433
googlers797045433
pharmgkbrs797045433
gwascentralrs797045433
openSNPrs797045433
23andMers797045433
23andMe allrs797045433
SNP Nexus

SNPshotrs797045433
SNPdbers797045433
MSV3drs797045433
GWAS Ctlgrs797045433
Max Magnitude
ClinVar
Risk rs797045433(;)
Alt rs797045433(;)
Reference rs797045433(AG;AG)
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.41383261_41383262delCT
CLNSRC
CLNACC RCV000194553.1,