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rs121434465

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434465(A;G)
Make rs121434465(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position4317
is asnp
is mentioned by
dbSNPrs121434465
dbSNP (classic)rs121434465
ClinGenrs121434465
ebirs121434465
HLIrs121434465
Exacrs121434465
Gnomadrs121434465
Varsomers121434465
LitVarrs121434465
Maprs121434465
PheGenIrs121434465
Biobankrs121434465
1000 genomesrs121434465
hgdprs121434465
ensemblrs121434465
geneviewrs121434465
scholarrs121434465
googlers121434465
pharmgkbrs121434465
gwascentralrs121434465
openSNPrs121434465
23andMers121434465
SNPshotrs121434465
SNPdbers121434465
MSV3drs121434465
GWAS Ctlgrs121434465
Max Magnitude0
ClinVar
Risk rs121434465(G;G)
Alt rs121434465(G;G)
Reference Rs121434465(A;A)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene
CLNDBN Cardiomyopathy, fatal infantile
Reversed 0
HGVS NC_012920.1:m.4317A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010224.4,