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

rs139794067

From SNPedia

Orientationplus
Geno Mag Summary
(A;G) 6 Familial hypertrophic cardiomyopathy (possible)
(G;G) 0 common in clinvar


Make rs139794067(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position46860813
GeneMYL3
is asnp
is mentioned by
dbSNPrs139794067
ClinGenrs139794067
ebirs139794067
HLIrs139794067
Exacrs139794067
Varsomers139794067
Maprs139794067
PheGenIrs139794067
hapmaprs139794067
1000 genomesrs139794067
hgdprs139794067
ensemblrs139794067
gopubmedrs139794067
geneviewrs139794067
scholarrs139794067
googlers139794067
pharmgkbrs139794067
gwascentralrs139794067
openSNPrs139794067
23andMers139794067
23andMe allrs139794067
SNP Nexus

SNPshotrs139794067
SNPdbers139794067
MSV3drs139794067
GWAS Ctlgrs139794067
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 rs139794067(A;A) rs139794067(C;C) rs139794067(T;T)
Alt rs139794067(A;A) rs139794067(C;C) rs139794067(T;T)
Reference Rs139794067(G;G)
Significance Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype not specified Cardiomyopathy
Variation info
Gene MYL3
CLNDBN not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype not specified Cardiomyopathy
Reversed 0
HGVS NC_000003.11:g.46902303G>C; NC_000003.11:g.46902303G>T
CLNSRC Leiden Muscular Dystrophy pages (MYL3)
CLNACC RCV000024471.3, RCV000151369.2, RCV000229595.1, RCV000243485.1, RCV000036019.2, RCV000157371.1, RCV000158937.1, RCV000238674.1,