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rs730880671

From SNPedia

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


Make rs730880671(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47333221
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880671
dbSNP (classic)rs730880671
ClinGenrs730880671
ebirs730880671
HLIrs730880671
Exacrs730880671
Gnomadrs730880671
Varsomers730880671
LitVarrs730880671
Maprs730880671
PheGenIrs730880671
Biobankrs730880671
1000 genomesrs730880671
hgdprs730880671
ensemblrs730880671
geneviewrs730880671
scholarrs730880671
googlers730880671
pharmgkbrs730880671
gwascentralrs730880671
openSNPrs730880671
23andMers730880671
SNPshotrs730880671
SNPdbers730880671
MSV3drs730880671
GWAS Ctlgrs730880671
Max Magnitude6.2
ClinVar
Risk rs730880671(-;-)
Alt rs730880671(-;-)
Reference Rs730880671(CA;CA)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47354772_47354773delTG
CLNSRC
CLNACC RCV000158398.1,