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rs730880659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGGC;TGGC) 0 common in clinvar
Make rs730880659(-;-)
Make rs730880659(-;TGGC)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47351404
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880659
dbSNP (classic)rs730880659
ClinGenrs730880659
ebirs730880659
HLIrs730880659
Exacrs730880659
Gnomadrs730880659
Varsomers730880659
LitVarrs730880659
Maprs730880659
PheGenIrs730880659
Biobankrs730880659
1000 genomesrs730880659
hgdprs730880659
ensemblrs730880659
geneviewrs730880659
scholarrs730880659
googlers730880659
pharmgkbrs730880659
gwascentralrs730880659
openSNPrs730880659
23andMers730880659
SNPshotrs730880659
SNPdbers730880659
MSV3drs730880659
GWAS Ctlgrs730880659
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs730880659(TGGC;TGGC)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47372955_47372958delGCCA
CLNSRC
CLNACC RCV000158376.1,