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rs121908490

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908490(C;T)
Make rs121908490(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position94628288
GeneSGCE
is asnp
is mentioned by
dbSNPrs121908490
ebirs121908490
HLIrs121908490
Exacrs121908490
Varsomers121908490
Maprs121908490
PheGenIrs121908490
hapmaprs121908490
1000 genomesrs121908490
hgdprs121908490
ensemblrs121908490
gopubmedrs121908490
geneviewrs121908490
scholarrs121908490
googlers121908490
pharmgkbrs121908490
gwascentralrs121908490
openSNPrs121908490
23andMers121908490
23andMe allrs121908490
SNP Nexus

SNPshotrs121908490
SNPdbers121908490
MSV3drs121908490
GWAS Ctlgrs121908490
Max Magnitude0
OMIM604149
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908490(T;T)
Alt rs121908490(T;T)
Reference rs121908490(C;C)
Significance Pathogenic
Disease Myoclonic dystonia
Variation info
Gene SGCE
CLNDBN Myoclonic dystonia
Reversed 1
HGVS NC_000007.13:g.94257600G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006125.3,