rs139794067

Orientation

plus

Stabilized

plus

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

Make rs139794067(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

46860813

Gene

MYL3

is a	snp
is	mentioned by
dbSNP	rs139794067
dbSNP (classic)	rs139794067
ClinGen	rs139794067
ebi	rs139794067
HLI	rs139794067
Exac	rs139794067
Gnomad	rs139794067
Varsome	rs139794067
LitVar	rs139794067
Map	rs139794067
PheGenI	rs139794067
Biobank	rs139794067
1000 genomes	rs139794067
hgdp	rs139794067
ensembl	rs139794067
geneview	rs139794067
scholar	rs139794067
google	rs139794067
pharmgkb	rs139794067
gwascentral	rs139794067
openSNP	rs139794067
23andMe	rs139794067
SNPshot	rs139794067
SNPdbe	rs139794067
MSV3d	rs139794067
GWAS Ctlg	rs139794067

Max Magnitude

6

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].

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, RCV000229595.2, RCV000243485.1, RCV000036019.2, RCV000157371.1, RCV000158937.2, RCV000238674.1,