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rs36211723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs36211723(A;A)
Make rs36211723(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position47338520
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs36211723
ebirs36211723
HLIrs36211723
Exacrs36211723
Varsomers36211723
Maprs36211723
PheGenIrs36211723
hapmaprs36211723
1000 genomesrs36211723
hgdprs36211723
ensemblrs36211723
gopubmedrs36211723
geneviewrs36211723
scholarrs36211723
googlers36211723
pharmgkbrs36211723
gwascentralrs36211723
openSNPrs36211723
23andMers36211723
23andMe allrs36211723
SNP Nexus

SNPshotrs36211723
SNPdbers36211723
MSV3drs36211723
GWAS Ctlgrs36211723
Max Magnitude0
ClinVar
Risk rs36211723(A;A)
Alt rs36211723(A;A)
Reference rs36211723(G;G)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47360071C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030282.3, RCV000158146.2, RCV000161126.3, RCV000205565.1,



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


[PMID 16858239] A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.


[PMID 18273486OA-icon.png] MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India.


[PMID 18533079] Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.