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rs397516019

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397516019(-;-)
Make rs397516019(-;TTAT)
Make rs397516019(TTAT;TTAT)
ReferenceGRCh38 38.1/141
Chromosome11
Position47332824
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516019
ebirs397516019
HLIrs397516019
Exacrs397516019
Varsomers397516019
Maprs397516019
PheGenIrs397516019
hapmaprs397516019
1000 genomesrs397516019
hgdprs397516019
ensemblrs397516019
gopubmedrs397516019
geneviewrs397516019
scholarrs397516019
googlers397516019
pharmgkbrs397516019
gwascentralrs397516019
openSNPrs397516019
23andMers397516019
23andMe allrs397516019
SNP Nexus

SNPshotrs397516019
SNPdbers397516019
MSV3drs397516019
GWAS Ctlgrs397516019
Max Magnitude0
ClinVar
Risk rs397516019(TTAT;TTAT)
Alt rs397516019(TTAT;TTAT)
Reference rs397516019(;)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy Cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354376_47354379dupATAA
CLNSRC ClinVar
CLNACC RCV000035589.2, RCV000158404.1,