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rs137852820

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852820(C;T)
Make rs137852820(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position41589562
GeneCASK
is asnp
is mentioned by
dbSNPrs137852820
ebirs137852820
HLIrs137852820
Exacrs137852820
Varsomers137852820
Maprs137852820
PheGenIrs137852820
hapmaprs137852820
1000 genomesrs137852820
hgdprs137852820
ensemblrs137852820
gopubmedrs137852820
geneviewrs137852820
scholarrs137852820
googlers137852820
pharmgkbrs137852820
gwascentralrs137852820
openSNPrs137852820
23andMers137852820
23andMe allrs137852820
SNP Nexus

SNPshotrs137852820
SNPdbers137852820
MSV3drs137852820
GWAS Ctlgrs137852820
Max Magnitude0
OMIM300172
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852820(G,T;G,T)
Alt rs137852820(G,T;G,T)
Reference rs137852820(C;C)
Significance Pathogenic
Disease FG syndrome 4
Variation info
Gene CASK
CLNDBN FG syndrome 4
Reversed 1
HGVS NC_000023.10:g.41448815G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012292.13,