rs397516463

Orientation

minus

Stabilized

minus

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

Make rs397516463(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

201364369

Gene

TNNT2

is a	snp
is	mentioned by
dbSNP	rs397516463
dbSNP (classic)	rs397516463
ClinGen	rs397516463
ebi	rs397516463
HLI	rs397516463
Exac	rs397516463
Gnomad	rs397516463
Varsome	rs397516463
LitVar	rs397516463
Map	rs397516463
PheGenI	rs397516463
Biobank	rs397516463
1000 genomes	rs397516463
hgdp	rs397516463
ensembl	rs397516463
geneview	rs397516463
scholar	rs397516463
google	rs397516463
pharmgkb	rs397516463
gwascentral	rs397516463
openSNP	rs397516463
23andMe	rs397516463
SNPshot	rs397516463
SNPdbe	rs397516463
MSV3d	rs397516463
GWAS Ctlg	rs397516463

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	rs397516463(T;T)
Alt	rs397516463(T;T)
Reference	Rs397516463(C;C)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Familial hypertrophic cardiomyopathy 2
Variation	info
Gene	TNNT2
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Familial hypertrophic cardiomyopathy 2
Reversed	1
HGVS	NC_000001.10:g.201333497G>A
CLNSRC	ClinVar
CLNACC	RCV000036583.3, RCV000159290.2, RCV000243733.1, RCV000468121.1,