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rs121913005

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913005(C;T)
Make rs121913005(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219425699
GeneDES
is asnp
is mentioned by
dbSNPrs121913005
ebirs121913005
HLIrs121913005
Exacrs121913005
Varsomers121913005
Maprs121913005
PheGenIrs121913005
hapmaprs121913005
1000 genomesrs121913005
hgdprs121913005
ensemblrs121913005
gopubmedrs121913005
geneviewrs121913005
scholarrs121913005
googlers121913005
pharmgkbrs121913005
gwascentralrs121913005
openSNPrs121913005
23andMers121913005
23andMe allrs121913005
SNP Nexus

SNPshotrs121913005
SNPdbers121913005
MSV3drs121913005
GWAS Ctlgrs121913005
Max Magnitude0
OMIM125660
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121913005(T;T)
Alt rs121913005(T;T)
Reference rs121913005(C;C)
Significance Pathogenic
Disease Myofibrillar myopathy 1 not provided
Variation info
Gene DES LOC101928568
CLNDBN Myofibrillar myopathy 1 not provided
Reversed 0
HGVS NC_000002.11:g.220290421C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018328.29, RCV000056784.1,