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rs58898021

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs58898021(C;C)
Make rs58898021(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position219421385
GeneDES
is asnp
is mentioned by
dbSNPrs58898021
ebirs58898021
HLIrs58898021
Exacrs58898021
Varsomers58898021
Maprs58898021
PheGenIrs58898021
hapmaprs58898021
1000 genomesrs58898021
hgdprs58898021
ensemblrs58898021
gopubmedrs58898021
geneviewrs58898021
scholarrs58898021
googlers58898021
pharmgkbrs58898021
gwascentralrs58898021
openSNPrs58898021
23andMers58898021
23andMe allrs58898021
SNP Nexus

SNPshotrs58898021
SNPdbers58898021
MSV3drs58898021
GWAS Ctlgrs58898021
Max Magnitude0
ClinVar
Risk rs58898021(C;C)
Alt rs58898021(C;C)
Reference rs58898021(G;G)
Significance Pathogenic
Disease not provided Myofibrillar myopathy
Variation info
Gene DES
CLNDBN not provided Myofibrillar myopathy
Reversed 0
HGVS NC_000002.11:g.220286107G>C
CLNSRC
CLNACC RCV000056769.1, RCV000239682.1,