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rs137852819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852819(C;C)
Make rs137852819(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position41520446
GeneCASK
is asnp
is mentioned by
dbSNPrs137852819
ebirs137852819
HLIrs137852819
Exacrs137852819
Varsomers137852819
Maprs137852819
PheGenIrs137852819
hapmaprs137852819
1000 genomesrs137852819
hgdprs137852819
ensemblrs137852819
gopubmedrs137852819
geneviewrs137852819
scholarrs137852819
googlers137852819
pharmgkbrs137852819
gwascentralrs137852819
openSNPrs137852819
23andMers137852819
23andMe allrs137852819
SNP Nexus

SNPshotrs137852819
SNPdbers137852819
MSV3drs137852819
GWAS Ctlgrs137852819
Max Magnitude0
OMIM300172
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852819(C;C)
Alt rs137852819(C;C)
Reference rs137852819(T;T)
Significance Pathogenic
Disease FG syndrome 4
Variation info
Gene CASK
CLNDBN FG syndrome 4
Reversed 1
HGVS NC_000023.10:g.41379699A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012291.22,