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rs587783369

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783369(A;A)
Make rs587783369(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position41660506
GeneCASK
is asnp
is mentioned by
dbSNPrs587783369
ebirs587783369
HLIrs587783369
Exacrs587783369
Varsomers587783369
Maprs587783369
PheGenIrs587783369
hapmaprs587783369
1000 genomesrs587783369
hgdprs587783369
ensemblrs587783369
gopubmedrs587783369
geneviewrs587783369
scholarrs587783369
googlers587783369
pharmgkbrs587783369
gwascentralrs587783369
openSNPrs587783369
23andMers587783369
23andMe allrs587783369
SNP Nexus

SNPshotrs587783369
SNPdbers587783369
MSV3drs587783369
GWAS Ctlgrs587783369
Max Magnitude0
ClinVar
Risk rs587783369(A;A)
Alt rs587783369(A;A)
Reference rs587783369(G;G)
Significance Probable-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.41519759C>T
CLNSRC
CLNACC RCV000145413.2,