Have questions? Visit https://www.reddit.com/r/SNPedia

rs111683277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 Familial hypertrophic cardiomyopathy (possible)
Make rs111683277(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47333556
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs111683277
dbSNP (old)rs111683277
ClinGenrs111683277
ebirs111683277
HLIrs111683277
Exacrs111683277
Varsomers111683277
Maprs111683277
PheGenIrs111683277
Biobankrs111683277
1000 genomesrs111683277
hgdprs111683277
ensemblrs111683277
gopubmedrs111683277
geneviewrs111683277
scholarrs111683277
googlers111683277
pharmgkbrs111683277
gwascentralrs111683277
openSNPrs111683277
23andMers111683277
23andMe allrs111683277
SNP Nexus

SNPshotrs111683277
SNPdbers111683277
MSV3drs111683277
GWAS Ctlgrs111683277
Max Magnitude6
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].
ClinVar
Risk rs111683277(G;G) rs111683277(T;T)
Alt rs111683277(G;G) rs111683277(T;T)
Reference Rs111683277(C;C)
Significance Other
Disease not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not provided Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000011.9:g.47355107C>T
CLNSRC
CLNACC RCV000158206.3, RCV000211816.1,