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rs730880717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AGGAGATCCTGCGTGA) 6.2 Familial Hypertrophic Cardiomyopathy
(AGGAGATCCTGCGTGA;AGGAGATCCTGCGTGA) 0 common in clinvar


Make rs730880717(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47335038
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880717
dbSNP (classic)rs730880717
ClinGenrs730880717
ebirs730880717
HLIrs730880717
Exacrs730880717
Gnomadrs730880717
Varsomers730880717
LitVarrs730880717
Maprs730880717
PheGenIrs730880717
Biobankrs730880717
1000 genomesrs730880717
hgdprs730880717
ensemblrs730880717
geneviewrs730880717
scholarrs730880717
googlers730880717
pharmgkbrs730880717
gwascentralrs730880717
openSNPrs730880717
23andMers730880717
SNPshotrs730880717
SNPdbers730880717
MSV3drs730880717
GWAS Ctlgrs730880717
Max Magnitude6.2
ClinVar
Risk rs730880717(-;-)
Alt rs730880717(-;-)
Reference Rs730880717(AGGAGATCCTGCGTGA;AGGAGATCCTGCGTGA)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47356589_47356604del16
CLNSRC
CLNACC RCV000158481.1,