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rs121913004

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913004(A;C)
Make rs121913004(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position219421482
GeneDES
is asnp
is mentioned by
dbSNPrs121913004
ebirs121913004
HLIrs121913004
Exacrs121913004
Varsomers121913004
Maprs121913004
PheGenIrs121913004
hapmaprs121913004
1000 genomesrs121913004
hgdprs121913004
ensemblrs121913004
gopubmedrs121913004
geneviewrs121913004
scholarrs121913004
googlers121913004
pharmgkbrs121913004
gwascentralrs121913004
openSNPrs121913004
23andMers121913004
23andMe allrs121913004
SNP Nexus

SNPshotrs121913004
SNPdbers121913004
MSV3drs121913004
GWAS Ctlgrs121913004
Merged fromRs28930075
Max Magnitude0
OMIM125660
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121913004(C;C)
Alt rs121913004(C;C)
Reference rs121913004(A;A)
Significance Pathogenic
Disease Myofibrillar myopathy 1 not provided
Variation info
Gene DES
CLNDBN Myofibrillar myopathy 1 not provided
Reversed 0
HGVS NC_000002.11:g.220286204A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018324.24, RCV000056776.1,