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rs397516058

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CGCCAGCCTCCTGAAGCCGC) 6.2 Familial Hypertrophic Cardiomyopathy
(CGCCAGCCTCCTGAAGCCGC;CGCCAGCCTCCTGAAGCCGC) 0 common/normal
(GCCAGCCTCCTGAAGCCGCC;GCCAGCCTCCTGAAGCCGCC) 0 common in clinvar


Make rs397516058(-;-)
ReferenceGRCh38 38.1/141
Chromosome11
Position47349869
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397516058
dbSNP (classic)rs397516058
ClinGenrs397516058
ebirs397516058
HLIrs397516058
Exacrs397516058
Gnomadrs397516058
Varsomers397516058
LitVarrs397516058
Maprs397516058
PheGenIrs397516058
Biobankrs397516058
1000 genomesrs397516058
hgdprs397516058
ensemblrs397516058
geneviewrs397516058
scholarrs397516058
googlers397516058
pharmgkbrs397516058
gwascentralrs397516058
openSNPrs397516058
23andMers397516058
SNPshotrs397516058
SNPdbers397516058
MSV3drs397516058
GWAS Ctlgrs397516058
Max Magnitude6.2
ClinVar
Risk rs397516058(-;-)
Alt rs397516058(-;-)
Reference Rs397516058(GCCAGCCTCCTGAAGCCGCC;GCCAGCCTCCTGAAGCCGCC)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47371420_47371439del20
CLNSRC ClinVar
CLNACC RCV000035645.2,