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rs864309705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 DNM2-related intermediate Charcot-Marie-Tooth neuropathy
(G;G) 0 common in clinvar


Make rs864309705(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position10793748
GeneDNM2
is asnp
is mentioned by
dbSNPrs864309705
dbSNP (classic)rs864309705
ClinGenrs864309705
ebirs864309705
HLIrs864309705
Exacrs864309705
Gnomadrs864309705
Varsomers864309705
LitVarrs864309705
Maprs864309705
PheGenIrs864309705
Biobankrs864309705
1000 genomesrs864309705
hgdprs864309705
ensemblrs864309705
geneviewrs864309705
scholarrs864309705
googlers864309705
pharmgkbrs864309705
gwascentralrs864309705
openSNPrs864309705
23andMers864309705
SNPshotrs864309705
SNPdbers864309705
MSV3drs864309705
GWAS Ctlgrs864309705
Max Magnitude6
ClinVar
Risk rs864309705(A;A)
Alt rs864309705(A;A)
Reference Rs864309705(G;G)
Significance Probable-Pathogenic
Disease DNM2-related intermediate Charcot-Marie-Tooth neuropathy
Variation info
Gene DNM2
CLNDBN DNM2-related intermediate Charcot-Marie-Tooth neuropathy
Reversed 0
HGVS NC_000019.9:g.10904424G>A
CLNSRC
CLNACC RCV000203274.1,