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rs587783362

From SNPedia

Orientationminus
Geno Mag Summary
(TGTTCGAG;TGTTCGAG) 0 common in clinvar
Make rs587783362(-;-)
Make rs587783362(-;TGTTCGAG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position41922962
GeneCASK
is asnp
is mentioned by
dbSNPrs587783362
ebirs587783362
HLIrs587783362
Exacrs587783362
Varsomers587783362
Maprs587783362
PheGenIrs587783362
hapmaprs587783362
1000 genomesrs587783362
hgdprs587783362
ensemblrs587783362
gopubmedrs587783362
geneviewrs587783362
scholarrs587783362
googlers587783362
pharmgkbrs587783362
gwascentralrs587783362
openSNPrs587783362
23andMers587783362
23andMe allrs587783362
SNP Nexus

SNPshotrs587783362
SNPdbers587783362
MSV3drs587783362
GWAS Ctlgrs587783362
Max Magnitude0
ClinVar
Risk rs587783362(;)
Alt rs587783362(;)
Reference rs587783362(TGTTCGAG;TGTTCGAG)
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.41782215_41782222delCTCGAACA
CLNSRC
CLNACC RCV000145399.1,