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rs121913001

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913001(A;T)
Make rs121913001(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219421494
GeneDES
is asnp
is mentioned by
dbSNPrs121913001
ebirs121913001
HLIrs121913001
Exacrs121913001
Varsomers121913001
Maprs121913001
PheGenIrs121913001
hapmaprs121913001
1000 genomesrs121913001
hgdprs121913001
ensemblrs121913001
gopubmedrs121913001
geneviewrs121913001
scholarrs121913001
googlers121913001
pharmgkbrs121913001
gwascentralrs121913001
openSNPrs121913001
23andMers121913001
23andMe allrs121913001
SNP Nexus

SNPshotrs121913001
SNPdbers121913001
MSV3drs121913001
GWAS Ctlgrs121913001
Max Magnitude0
OMIM125660
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913001(G,T;G,T)
Alt rs121913001(G,T;G,T)
Reference rs121913001(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.220286216A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018316.29, RCV000056778.1,