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rs121913000

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913000(C;C)
Make rs121913000(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219421394
GeneDES
is asnp
is mentioned by
dbSNPrs121913000
ebirs121913000
HLIrs121913000
Exacrs121913000
Varsomers121913000
Maprs121913000
PheGenIrs121913000
hapmaprs121913000
1000 genomesrs121913000
hgdprs121913000
ensemblrs121913000
gopubmedrs121913000
geneviewrs121913000
scholarrs121913000
googlers121913000
pharmgkbrs121913000
gwascentralrs121913000
openSNPrs121913000
23andMers121913000
23andMe allrs121913000
SNP Nexus

SNPshotrs121913000
SNPdbers121913000
MSV3drs121913000
GWAS Ctlgrs121913000
Max Magnitude0
OMIM125660
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913000(C;C)
Alt rs121913000(C;C)
Reference rs121913000(G;G)
Significance Pathogenic
Disease Myofibrillar myopathy 1
Variation info
Gene DES
CLNDBN Myofibrillar myopathy 1
Reversed 0
HGVS NC_000002.11:g.220286116G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018315.24,