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rs137852817

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852817(C;C)
Make rs137852817(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position41660468
GeneCASK
is asnp
is mentioned by
dbSNPrs137852817
ebirs137852817
HLIrs137852817
Exacrs137852817
Varsomers137852817
Maprs137852817
PheGenIrs137852817
hapmaprs137852817
1000 genomesrs137852817
hgdprs137852817
ensemblrs137852817
gopubmedrs137852817
geneviewrs137852817
scholarrs137852817
googlers137852817
pharmgkbrs137852817
gwascentralrs137852817
openSNPrs137852817
23andMers137852817
23andMe allrs137852817
SNP Nexus

SNPshotrs137852817
SNPdbers137852817
MSV3drs137852817
GWAS Ctlgrs137852817
Max Magnitude0
OMIM300172
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852817(C;C)
Alt rs137852817(C;C)
Reference rs137852817(T;T)
Significance Pathogenic
Disease FG syndrome 4
Variation info
Gene CASK
CLNDBN FG syndrome 4
Reversed 1
HGVS NC_000023.10:g.41519721A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012289.11,