rs397516457

Orientation

minus

Stabilized

minus

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

Make rs397516457(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

201365291

Gene

TNNT2

is a	snp
is	mentioned by
dbSNP	rs397516457
dbSNP (classic)	rs397516457
ClinGen	rs397516457
ebi	rs397516457
HLI	rs397516457
Exac	rs397516457
Gnomad	rs397516457
Varsome	rs397516457
LitVar	rs397516457
Map	rs397516457
PheGenI	rs397516457
Biobank	rs397516457
1000 genomes	rs397516457
hgdp	rs397516457
ensembl	rs397516457
geneview	rs397516457
scholar	rs397516457
google	rs397516457
pharmgkb	rs397516457
gwascentral	rs397516457
openSNP	rs397516457
23andMe	rs397516457
SNPshot	rs397516457
SNPdbe	rs397516457
MSV3d	rs397516457
GWAS Ctlg	rs397516457

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	rs397516457(A;A) rs397516457(T;T)
Alt	rs397516457(A;A) rs397516457(T;T)
Reference	Rs397516457(G;G)
Significance	Other
Disease	not specified not provided Familial hypertrophic cardiomyopathy 2 Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	TNNT2
CLNDBN	not specified not provided Familial hypertrophic cardiomyopathy 2 Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000001.10:g.201334419C>A; NC_000001.10:g.201334419C>T
CLNSRC	ClinVar
CLNACC	RCV000036576.3, RCV000159284.2, RCV000468546.1, RCV000036575.3, RCV000159283.1, RCV000230630.1,