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rs121909094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909094(A;A)
Make rs121909094(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position10820017
GeneDNM2
is asnp
is mentioned by
dbSNPrs121909094
dbSNP (classic)rs121909094
ClinGenrs121909094
ebirs121909094
HLIrs121909094
Exacrs121909094
Gnomadrs121909094
Varsomers121909094
LitVarrs121909094
Maprs121909094
PheGenIrs121909094
Biobankrs121909094
1000 genomesrs121909094
hgdprs121909094
ensemblrs121909094
geneviewrs121909094
scholarrs121909094
googlers121909094
pharmgkbrs121909094
gwascentralrs121909094
openSNPrs121909094
23andMers121909094
SNPshotrs121909094
SNPdbers121909094
MSV3drs121909094
GWAS Ctlgrs121909094
Max Magnitude0
OMIM602378
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121909094(A;A)
Alt rs121909094(A;A)
Reference Rs121909094(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene DNM2
CLNDBN Charcot-Marie-Tooth disease, type 2M
Reversed 0
HGVS NC_000019.9:g.10930693T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007707.3,