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rs121913003

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913003(C;T)
Make rs121913003(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219421532
GeneDES
is asnp
is mentioned by
dbSNPrs121913003
ebirs121913003
HLIrs121913003
Exacrs121913003
Varsomers121913003
Maprs121913003
PheGenIrs121913003
hapmaprs121913003
1000 genomesrs121913003
hgdprs121913003
ensemblrs121913003
gopubmedrs121913003
geneviewrs121913003
scholarrs121913003
googlers121913003
pharmgkbrs121913003
gwascentralrs121913003
openSNPrs121913003
23andMers121913003
23andMe allrs121913003
SNP Nexus

SNPshotrs121913003
SNPdbers121913003
MSV3drs121913003
GWAS Ctlgrs121913003
Max Magnitude0
OMIM125660
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121913003(T;T)
Alt rs121913003(T;T)
Reference rs121913003(C;C)
Significance Other
Disease Myofibrillar myopathy 1 not provided
Variation info
Gene DES
CLNDBN Myofibrillar myopathy 1 not provided
Reversed 0
HGVS NC_000002.11:g.220286254C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018320.29, RCV000056781.3,