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rs863223284

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863223284(-;T)
Make rs863223284(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position94600798
GeneCASD1, SGCE
is asnp
is mentioned by
dbSNPrs863223284
dbSNP (classic)rs863223284
ClinGenrs863223284
ebirs863223284
HLIrs863223284
Exacrs863223284
Gnomadrs863223284
Varsomers863223284
LitVarrs863223284
Maprs863223284
PheGenIrs863223284
Biobankrs863223284
1000 genomesrs863223284
hgdprs863223284
ensemblrs863223284
geneviewrs863223284
scholarrs863223284
googlers863223284
pharmgkbrs863223284
gwascentralrs863223284
openSNPrs863223284
23andMers863223284
SNPshotrs863223284
SNPdbers863223284
MSV3drs863223284
GWAS Ctlgrs863223284
Max Magnitude0
ClinVar
Risk rs863223284(T;T)
Alt rs863223284(T;T)
Reference Rs863223284(-;-)
Significance Pathogenic
Disease Myoclonic dystonia
Variation info
Gene SGCE
CLNDBN Myoclonic dystonia
Reversed 1
HGVS NC_000007.13:g.94230111dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006130.4,