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rs121434470

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434470(A;G)
Make rs121434470(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position4300
is asnp
is mentioned by
dbSNPrs121434470
dbSNP (classic)rs121434470
ClinGenrs121434470
ebirs121434470
HLIrs121434470
Exacrs121434470
Gnomadrs121434470
Varsomers121434470
LitVarrs121434470
Maprs121434470
PheGenIrs121434470
Biobankrs121434470
1000 genomesrs121434470
hgdprs121434470
ensemblrs121434470
geneviewrs121434470
scholarrs121434470
googlers121434470
pharmgkbrs121434470
gwascentralrs121434470
openSNPrs121434470
23andMers121434470
SNPshotrs121434470
SNPdbers121434470
MSV3drs121434470
GWAS Ctlgrs121434470
Max Magnitude0
ClinVar
Risk rs121434470(G;G)
Alt rs121434470(G;G)
Reference Rs121434470(A;A)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_012920.1:m.4300A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010229.2,