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rs121434404

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434404(C;T)
Make rs121434404(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position95841652
GeneMTMR2
is asnp
is mentioned by
dbSNPrs121434404
dbSNP (classic)rs121434404
ClinGenrs121434404
ebirs121434404
HLIrs121434404
Exacrs121434404
Gnomadrs121434404
Varsomers121434404
LitVarrs121434404
Maprs121434404
PheGenIrs121434404
Biobankrs121434404
1000 genomesrs121434404
hgdprs121434404
ensemblrs121434404
geneviewrs121434404
scholarrs121434404
googlers121434404
pharmgkbrs121434404
gwascentralrs121434404
openSNPrs121434404
23andMers121434404
SNPshotrs121434404
SNPdbers121434404
MSV3drs121434404
GWAS Ctlgrs121434404
Max Magnitude0
OMIM603557
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434404(T;T)
Alt rs121434404(T;T)
Reference Rs121434404(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.95574816G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006612.2,