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rs587783360

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783360(C;T)
Make rs587783360(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position41542805
GeneCASK
is asnp
is mentioned by
dbSNPrs587783360
dbSNP (old)rs587783360
ClinGenrs587783360
ebirs587783360
HLIrs587783360
Exacrs587783360
Gnomadrs587783360
Varsomers587783360
Maprs587783360
PheGenIrs587783360
Biobankrs587783360
1000 genomesrs587783360
hgdprs587783360
ensemblrs587783360
gopubmedrs587783360
geneviewrs587783360
scholarrs587783360
googlers587783360
pharmgkbrs587783360
gwascentralrs587783360
openSNPrs587783360
23andMers587783360
23andMe allrs587783360
SNP Nexus

SNPshotrs587783360
SNPdbers587783360
MSV3drs587783360
GWAS Ctlgrs587783360
Max Magnitude0
ClinVar
Risk rs587783360(T;T)
Alt rs587783360(T;T)
Reference Rs587783360(C;C)
Significance Pathogenic
Disease Mental retardation and microcephaly with pontine and cerebellar hypoplasia not provided
Variation info
Gene CASK
CLNDBN Mental retardation and microcephaly with pontine and cerebellar hypoplasia not provided
Reversed 1
HGVS NC_000023.10:g.41402058G>A
CLNSRC
CLNACC RCV000145397.1, RCV000263870.1,