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rs137852818

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852818(A;G)
Make rs137852818(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position41542717
GeneCASK
is asnp
is mentioned by
dbSNPrs137852818
ebirs137852818
HLIrs137852818
Exacrs137852818
Varsomers137852818
Maprs137852818
PheGenIrs137852818
hapmaprs137852818
1000 genomesrs137852818
hgdprs137852818
ensemblrs137852818
gopubmedrs137852818
geneviewrs137852818
scholarrs137852818
googlers137852818
pharmgkbrs137852818
gwascentralrs137852818
openSNPrs137852818
23andMers137852818
23andMe allrs137852818
SNP Nexus

SNPshotrs137852818
SNPdbers137852818
MSV3drs137852818
GWAS Ctlgrs137852818
Max Magnitude0
OMIM300172
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852818(G;G)
Alt rs137852818(G;G)
Reference rs137852818(A;A)
Significance Pathogenic
Disease FG syndrome 4
Variation info
Gene CASK
CLNDBN FG syndrome 4
Reversed 1
HGVS NC_000023.10:g.41401970T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012290.24,