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rs187830361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs187830361(A;G)
Make rs187830361(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337729
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs187830361
ebirs187830361
HLIrs187830361
Exacrs187830361
Varsomers187830361
Maprs187830361
PheGenIrs187830361
hapmaprs187830361
1000 genomesrs187830361
hgdprs187830361
ensemblrs187830361
gopubmedrs187830361
geneviewrs187830361
scholarrs187830361
googlers187830361
pharmgkbrs187830361
gwascentralrs187830361
openSNPrs187830361
23andMers187830361
23andMe allrs187830361
SNP Nexus

SNPshotrs187830361
SNPdbers187830361
MSV3drs187830361
GWAS Ctlgrs187830361
Max Magnitude0
ClinVar
Risk rs187830361(C,G;C,G)
Alt rs187830361(C,G;C,G)
Reference rs187830361(A;A)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000011.9:g.47359280A>G
CLNSRC ClinVar LabCorp University of Washington
CLNACC RCV000030283.6, RCV000223788.1, RCV000228493.1,


[PMID 15519027] Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.


[PMID 19808356OA-icon.png] Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.