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rs397514751

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514751(G;T)
Make rs397514751(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47332095
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397514751
ebirs397514751
HLIrs397514751
Exacrs397514751
Varsomers397514751
Maprs397514751
PheGenIrs397514751
hapmaprs397514751
1000 genomesrs397514751
hgdprs397514751
ensemblrs397514751
gopubmedrs397514751
geneviewrs397514751
scholarrs397514751
googlers397514751
pharmgkbrs397514751
gwascentralrs397514751
openSNPrs397514751
23andMers397514751
23andMe allrs397514751
SNP Nexus

SNPshotrs397514751
SNPdbers397514751
MSV3drs397514751
GWAS Ctlgrs397514751
Max Magnitude0
ClinVar
Risk rs397514751(A,T;A,T)
Alt rs397514751(A,T;A,T)
Reference rs397514751(G;G)
Significance Pathogenic
Disease Left ventricular noncompaction 10 not provided not specified
Variation info
Gene MYBPC3
CLNDBN Left ventricular noncompaction 10 not provided not specified
Reversed 1
HGVS NC_000011.9:g.47353646C>A; NC_000011.9:g.47353646C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054798.4, RCV000158267.1, RCV000035617.2, RCV000158266.2,