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rs121909093

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 DNM2-related intermediate Charcot-Marie-Tooth neuropathy
(G;G) 0 common in clinvar
Make rs121909093(G;T)
Make rs121909093(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position10812315
GeneDNM2
is asnp
is mentioned by
dbSNPrs121909093
dbSNP (classic)rs121909093
ClinGenrs121909093
ebirs121909093
HLIrs121909093
Exacrs121909093
Gnomadrs121909093
Varsomers121909093
LitVarrs121909093
Maprs121909093
PheGenIrs121909093
Biobankrs121909093
1000 genomesrs121909093
hgdprs121909093
ensemblrs121909093
geneviewrs121909093
scholarrs121909093
googlers121909093
pharmgkbrs121909093
gwascentralrs121909093
openSNPrs121909093
23andMers121909093
SNPshotrs121909093
SNPdbers121909093
MSV3drs121909093
GWAS Ctlgrs121909093
Max Magnitude6
OMIM602378
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121909093(A;A) rs121909093(T;T)
Alt rs121909093(A;A) rs121909093(T;T)
Reference Rs121909093(G;G)
Significance Pathogenic
Disease not specified Sensorimotor neuropathy Charcot-Marie-Tooth disease
Variation info
Gene DNM2
CLNDBN not specified Sensorimotor neuropathy Charcot-Marie-Tooth disease, type 2M
Reversed 0
HGVS NC_000019.9:g.10922991G>A; NC_000019.9:g.10922991G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000235229.2, RCV000415354.1, RCV000007706.4,