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rs727504378

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504378(A;A)
Make rs727504378(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47335942
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504378
dbSNP (classic)rs727504378
ClinGenrs727504378
ebirs727504378
HLIrs727504378
Exacrs727504378
Gnomadrs727504378
Varsomers727504378
LitVarrs727504378
Maprs727504378
PheGenIrs727504378
Biobankrs727504378
1000 genomesrs727504378
hgdprs727504378
ensemblrs727504378
geneviewrs727504378
scholarrs727504378
googlers727504378
pharmgkbrs727504378
gwascentralrs727504378
openSNPrs727504378
23andMers727504378
SNPshotrs727504378
SNPdbers727504378
MSV3drs727504378
GWAS Ctlgrs727504378
Max Magnitude0
ClinVar
Risk rs727504378(A;A)
Alt rs727504378(A;A)
Reference Rs727504378(G;G)
Significance Probable-Pathogenic
Disease not specified Hypertrophic cardiomyopathy Cardiovascular phenotype
Variation info
Gene MYBPC3
CLNDBN not specified Hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed 1
HGVS NC_000011.9:g.47357493C>T
CLNSRC
CLNACC RCV000154535.2, RCV000226551.1, RCV000244782.1,