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rs727505397

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727505397(A;A)
Make rs727505397(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position41553782
GeneCASK
is asnp
is mentioned by
dbSNPrs727505397
ebirs727505397
HLIrs727505397
Exacrs727505397
Varsomers727505397
Maprs727505397
PheGenIrs727505397
hapmaprs727505397
1000 genomesrs727505397
hgdprs727505397
ensemblrs727505397
gopubmedrs727505397
geneviewrs727505397
scholarrs727505397
googlers727505397
pharmgkbrs727505397
gwascentralrs727505397
openSNPrs727505397
23andMers727505397
23andMe allrs727505397
SNP Nexus

SNPshotrs727505397
SNPdbers727505397
MSV3drs727505397
GWAS Ctlgrs727505397
Max Magnitude0
ClinVar
Risk rs727505397(A;A)
Alt rs727505397(A;A)
Reference rs727505397(G;G)
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.41413035C>T
CLNSRC
CLNACC RCV000157068.2,