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rs121434403

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434403(G;T)
Make rs121434403(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position95849841
GeneMTMR2
is asnp
is mentioned by
dbSNPrs121434403
dbSNP (classic)rs121434403
ClinGenrs121434403
ebirs121434403
HLIrs121434403
Exacrs121434403
Gnomadrs121434403
Varsomers121434403
LitVarrs121434403
Maprs121434403
PheGenIrs121434403
Biobankrs121434403
1000 genomesrs121434403
hgdprs121434403
ensemblrs121434403
geneviewrs121434403
scholarrs121434403
googlers121434403
pharmgkbrs121434403
gwascentralrs121434403
openSNPrs121434403
23andMers121434403
SNPshotrs121434403
SNPdbers121434403
MSV3drs121434403
GWAS Ctlgrs121434403
Max Magnitude0
OMIM603557
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434403(T;T)
Alt rs121434403(T;T)
Reference Rs121434403(G;G)
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.95583005C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006611.1,