rs143139258

Orientation

plus

Stabilized

plus

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

Make rs143139258(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

110913097

Gene

MYL2

is a	snp
is	mentioned by
dbSNP	rs143139258
dbSNP (classic)	rs143139258
ClinGen	rs143139258
ebi	rs143139258
HLI	rs143139258
Exac	rs143139258
Gnomad	rs143139258
Varsome	rs143139258
LitVar	rs143139258
Map	rs143139258
PheGenI	rs143139258
Biobank	rs143139258
1000 genomes	rs143139258
hgdp	rs143139258
ensembl	rs143139258
geneview	rs143139258
scholar	rs143139258
google	rs143139258
pharmgkb	rs143139258
gwascentral	rs143139258
openSNP	rs143139258
23andMe	rs143139258
SNPshot	rs143139258
SNPdbe	rs143139258
MSV3d	rs143139258
GWAS Ctlg	rs143139258

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	rs143139258(G;G)
Alt	rs143139258(G;G)
Reference	Rs143139258(T;T)
Significance	Probable-Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 10 not specified Cardiovascular phenotype Dilated cardiomyopathy 1S
Variation	info
Gene	MYL2
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 10 not specified Cardiovascular phenotype Dilated cardiomyopathy 1S
Reversed	0
HGVS	NC_000012.11:g.111350901T>G
CLNSRC	ClinVar University of Washington
CLNACC	RCV000036404.3, RCV000119379.1, RCV000154179.4, RCV000211874.2, RCV000248445.1, RCV000491626.1,

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