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rs369790992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs369790992(C;T)
Make rs369790992(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47338559
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs369790992
dbSNP (classic)rs369790992
ClinGenrs369790992
ebirs369790992
HLIrs369790992
Exacrs369790992
Gnomadrs369790992
Varsomers369790992
LitVarrs369790992
Maprs369790992
PheGenIrs369790992
Biobankrs369790992
1000 genomesrs369790992
hgdprs369790992
ensemblrs369790992
geneviewrs369790992
scholarrs369790992
googlers369790992
pharmgkbrs369790992
gwascentralrs369790992
openSNPrs369790992
23andMers369790992
SNPshotrs369790992
SNPdbers369790992
MSV3drs369790992
GWAS Ctlgrs369790992
Max Magnitude0

[PMID 24111713] Genetics of hypertrophic cardiomyopathy in Norway.


ClinVar
Risk rs369790992(T;T)
Alt rs369790992(T;T)
Reference Rs369790992(C;C)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000011.9:g.47360110C>T
CLNSRC
CLNACC RCV000148680.1, RCV000151099.3, RCV000463200.1,