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rs397516001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397516001(-;-)
Make rs397516001(-;A)
Make rs397516001(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position47333678
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516001
ebirs397516001
HLIrs397516001
Exacrs397516001
Varsomers397516001
Maprs397516001
PheGenIrs397516001
hapmaprs397516001
1000 genomesrs397516001
hgdprs397516001
ensemblrs397516001
gopubmedrs397516001
geneviewrs397516001
scholarrs397516001
googlers397516001
pharmgkbrs397516001
gwascentralrs397516001
openSNPrs397516001
23andMers397516001
23andMe allrs397516001
SNP Nexus

SNPshotrs397516001
SNPdbers397516001
MSV3drs397516001
GWAS Ctlgrs397516001
Max Magnitude0
ClinVar
Risk rs397516001(A;A)
Alt rs397516001(A;A)
Reference rs397516001(;)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47355230dupT
CLNSRC ClinVar
CLNACC RCV000035556.2,