Have questions? Visit https://www.reddit.com/r/SNPedia

rs587783364

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783364(C;T)
Make rs587783364(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position41531042
GeneCASK
is asnp
is mentioned by
dbSNPrs587783364
ebirs587783364
HLIrs587783364
Exacrs587783364
Varsomers587783364
Maprs587783364
PheGenIrs587783364
hapmaprs587783364
1000 genomesrs587783364
hgdprs587783364
ensemblrs587783364
gopubmedrs587783364
geneviewrs587783364
scholarrs587783364
googlers587783364
pharmgkbrs587783364
gwascentralrs587783364
openSNPrs587783364
23andMers587783364
23andMe allrs587783364
SNP Nexus

SNPshotrs587783364
SNPdbers587783364
MSV3drs587783364
GWAS Ctlgrs587783364
Max Magnitude0
ClinVar
Risk rs587783364(T;T)
Alt rs587783364(T;T)
Reference rs587783364(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.41390295G>A
CLNSRC
CLNACC RCV000145402.1,