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rs727504396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504396(A;A)
Make rs727504396(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47348483
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs727504396
dbSNP (classic)rs727504396
ClinGenrs727504396
ebirs727504396
HLIrs727504396
Exacrs727504396
Gnomadrs727504396
Varsomers727504396
LitVarrs727504396
Maprs727504396
PheGenIrs727504396
Biobankrs727504396
1000 genomesrs727504396
hgdprs727504396
ensemblrs727504396
geneviewrs727504396
scholarrs727504396
googlers727504396
pharmgkbrs727504396
gwascentralrs727504396
openSNPrs727504396
23andMers727504396
SNPshotrs727504396
SNPdbers727504396
MSV3drs727504396
GWAS Ctlgrs727504396
Max Magnitude0
ClinVar
Risk rs727504396(A;A)
Alt rs727504396(A;A)
Reference Rs727504396(G;G)
Significance Pathogenic
Disease not specified Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47370034C>T
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000154567.4, RCV000198900.1,