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rs137852816

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852816(G;T)
Make rs137852816(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position41853204
GeneCASK
is asnp
is mentioned by
dbSNPrs137852816
ebirs137852816
HLIrs137852816
Exacrs137852816
Varsomers137852816
Maprs137852816
PheGenIrs137852816
hapmaprs137852816
1000 genomesrs137852816
hgdprs137852816
ensemblrs137852816
gopubmedrs137852816
geneviewrs137852816
scholarrs137852816
googlers137852816
pharmgkbrs137852816
gwascentralrs137852816
openSNPrs137852816
23andMers137852816
23andMe allrs137852816
SNP Nexus

SNPshotrs137852816
SNPdbers137852816
MSV3drs137852816
GWAS Ctlgrs137852816
Max Magnitude0
OMIM300172
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852816(T;T)
Alt rs137852816(T;T)
Reference rs137852816(G;G)
Significance Pathogenic
Disease FG syndrome 4
Variation info
Gene CASK
CLNDBN FG syndrome 4
Reversed 1
HGVS NC_000023.10:g.41712457C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012288.24,