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rs797045431

From SNPedia

Orientationminus
Make rs797045431(-;-)
Make rs797045431(-;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position41553777
GeneCASK
is asnp
is mentioned by
dbSNPrs797045431
ebirs797045431
HLIrs797045431
Exacrs797045431
Varsomers797045431
Maprs797045431
PheGenIrs797045431
hapmaprs797045431
1000 genomesrs797045431
hgdprs797045431
ensemblrs797045431
gopubmedrs797045431
geneviewrs797045431
scholarrs797045431
googlers797045431
pharmgkbrs797045431
gwascentralrs797045431
openSNPrs797045431
23andMers797045431
23andMe allrs797045431
SNP Nexus

SNPshotrs797045431
SNPdbers797045431
MSV3drs797045431
GWAS Ctlgrs797045431
Max Magnitude
ClinVar
Risk rs797045431(;)
Alt rs797045431(;)
Reference rs797045431(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.41413030delG
CLNSRC
CLNACC RCV000194542.1,