Have questions? Visit https://www.reddit.com/r/SNPedia

rs121913002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913002(C;G)
Make rs121913002(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219425727
GeneDES
is asnp
is mentioned by
dbSNPrs121913002
ebirs121913002
HLIrs121913002
Exacrs121913002
Varsomers121913002
Maprs121913002
PheGenIrs121913002
hapmaprs121913002
1000 genomesrs121913002
hgdprs121913002
ensemblrs121913002
gopubmedrs121913002
geneviewrs121913002
scholarrs121913002
googlers121913002
pharmgkbrs121913002
gwascentralrs121913002
openSNPrs121913002
23andMers121913002
23andMe allrs121913002
SNP Nexus

SNPshotrs121913002
SNPdbers121913002
MSV3drs121913002
GWAS Ctlgrs121913002
GMAF0.0004591
Max Magnitude0
OMIM125660
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121913002(G,T;G,T)
Alt rs121913002(G,T;G,T)
Reference rs121913002(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 1I not provided not specified
Variation info
Gene DES LOC101928568
CLNDBN Dilated cardiomyopathy 1I not provided not specified
Reversed 0
HGVS NC_000002.11:g.220290449C>G; NC_000002.11:g.220290449C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018318.28, RCV000056787.3, RCV000219399.1,