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rs587783598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783598(C;G)
Make rs587783598(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position10823886
GeneDNM2
is asnp
is mentioned by
dbSNPrs587783598
dbSNP (classic)rs587783598
ClinGenrs587783598
ebirs587783598
HLIrs587783598
Exacrs587783598
Gnomadrs587783598
Varsomers587783598
LitVarrs587783598
Maprs587783598
PheGenIrs587783598
Biobankrs587783598
1000 genomesrs587783598
hgdprs587783598
ensemblrs587783598
geneviewrs587783598
scholarrs587783598
googlers587783598
pharmgkbrs587783598
gwascentralrs587783598
openSNPrs587783598
23andMers587783598
SNPshotrs587783598
SNPdbers587783598
MSV3drs587783598
GWAS Ctlgrs587783598
Max Magnitude0
ClinVar
Risk rs587783598(G;G)
Alt rs587783598(G;G)
Reference Rs587783598(C;C)
Significance Pathogenic
Disease Myopathy not provided
Variation info
Gene DNM2
CLNDBN Myopathy, centronuclear not provided
Reversed 0
HGVS NC_000019.9:g.10934562C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000145910.1, RCV000235945.2,