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rs121434402

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434402(C;T)
Make rs121434402(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position95845063
GeneMTMR2
is asnp
is mentioned by
dbSNPrs121434402
dbSNP (classic)rs121434402
ClinGenrs121434402
ebirs121434402
HLIrs121434402
Exacrs121434402
Gnomadrs121434402
Varsomers121434402
LitVarrs121434402
Maprs121434402
PheGenIrs121434402
Biobankrs121434402
1000 genomesrs121434402
hgdprs121434402
ensemblrs121434402
geneviewrs121434402
scholarrs121434402
googlers121434402
pharmgkbrs121434402
gwascentralrs121434402
openSNPrs121434402
23andMers121434402
SNPshotrs121434402
SNPdbers121434402
MSV3drs121434402
GWAS Ctlgrs121434402
Max Magnitude0
OMIM603557
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434402(T;T)
Alt rs121434402(T;T)
Reference Rs121434402(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MTMR2
CLNDBN Charcot-Marie-Tooth disease, type 4B1
Reversed 1
HGVS NC_000011.9:g.95578227G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006609.2,