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rs397516049

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397516049(-;-)
Make rs397516049(-;A)
Make rs397516049(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position47350082
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516049
ebirs397516049
HLIrs397516049
Exacrs397516049
Varsomers397516049
Maprs397516049
PheGenIrs397516049
hapmaprs397516049
1000 genomesrs397516049
hgdprs397516049
ensemblrs397516049
gopubmedrs397516049
geneviewrs397516049
scholarrs397516049
googlers397516049
pharmgkbrs397516049
gwascentralrs397516049
openSNPrs397516049
23andMers397516049
23andMe allrs397516049
SNP Nexus

SNPshotrs397516049
SNPdbers397516049
MSV3drs397516049
GWAS Ctlgrs397516049
Max Magnitude0
ClinVar
Risk rs397516049(A;A)
Alt rs397516049(A;A)
Reference rs397516049(;)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47371634dupT
CLNSRC ClinVar
CLNACC RCV000035626.2,