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rs121908492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908492(C;T)
Make rs121908492(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position94598914
GeneSGCE
is asnp
is mentioned by
dbSNPrs121908492
ebirs121908492
HLIrs121908492
Exacrs121908492
Varsomers121908492
Maprs121908492
PheGenIrs121908492
hapmaprs121908492
1000 genomesrs121908492
hgdprs121908492
ensemblrs121908492
gopubmedrs121908492
geneviewrs121908492
scholarrs121908492
googlers121908492
pharmgkbrs121908492
gwascentralrs121908492
openSNPrs121908492
23andMers121908492
23andMe allrs121908492
SNP Nexus

SNPshotrs121908492
SNPdbers121908492
MSV3drs121908492
GWAS Ctlgrs121908492
Max Magnitude0
OMIM604149
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908492(T;T)
Alt rs121908492(T;T)
Reference rs121908492(C;C)
Significance Pathogenic
Disease Myoclonic dystonia
Variation info
Gene SGCE
CLNDBN Myoclonic dystonia
Reversed 1
HGVS NC_000007.13:g.94228226G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006132.3,