rs74315379

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	7	Hypertrophic Cardiomyopathy
(C;C)	0	common in clinvar
(C;T)	6.2	Dilated cardiomyopathy

Make rs74315379(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

201364336

Gene

TNNT2

is a	snp
is	mentioned by
dbSNP	rs74315379
dbSNP (classic)	rs74315379
ClinGen	rs74315379
ebi	rs74315379
HLI	rs74315379
Exac	rs74315379
Gnomad	rs74315379
Varsome	rs74315379
LitVar	rs74315379
Map	rs74315379
PheGenI	rs74315379
Biobank	rs74315379
1000 genomes	rs74315379
hgdp	rs74315379
ensembl	rs74315379
geneview	rs74315379
scholar	rs74315379
google	rs74315379
pharmgkb	rs74315379
gwascentral	rs74315379
openSNP	rs74315379
23andMe	rs74315379
SNPshot	rs74315379
SNPdbe	rs74315379
MSV3d	rs74315379
GWAS Ctlg	rs74315379

Max Magnitude

7

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

OMIM	191045
Desc
Variant	0007
Related	also

OMIM	191045
Desc
Variant	0008
Related	also

ClinVar
Risk	rs74315379(A;A) rs74315379(T;T)
Alt	rs74315379(A;A) rs74315379(T;T)
Reference	Rs74315379(C;C)
Significance	Pathogenic
Disease	Left ventricular noncompaction 6 Primary dilated cardiomyopathy not provided Cardiomyopathy Primary familial hypertrophic cardiomyopathy not specified
Variation	info
Gene	TNNT2
CLNDBN	Left ventricular noncompaction 6 Primary dilated cardiomyopathy not provided Cardiomyopathy Primary familial hypertrophic cardiomyopathy not specified
Reversed	1
HGVS	NC_000001.10:g.201333464G>A; NC_000001.10:g.201333464G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013225.26, RCV000157537.1, RCV000159296.2, RCV000211866.1, RCV000257931.2, RCV000036591.2,