rs397516470

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;GAG)	6.2	Familial Hypertrophic Cardiomyopathy
(GAG;GAG)	0	common in clinvar

Make rs397516470(-;-)

Reference

GRCh38 38.1/141

Chromosome

1

Position

201363377

Gene

TNNT2

is a	snp
is	mentioned by
dbSNP	rs397516470
dbSNP (classic)	rs397516470
ClinGen	rs397516470
ebi	rs397516470
HLI	rs397516470
Exac	rs397516470
Gnomad	rs397516470
Varsome	rs397516470
LitVar	rs397516470
Map	rs397516470
PheGenI	rs397516470
Biobank	rs397516470
1000 genomes	rs397516470
hgdp	rs397516470
ensembl	rs397516470
geneview	rs397516470
scholar	rs397516470
google	rs397516470
pharmgkb	rs397516470
gwascentral	rs397516470
openSNP	rs397516470
23andMe	rs397516470
SNPshot	rs397516470
SNPdbe	rs397516470
MSV3d	rs397516470
GWAS Ctlg	rs397516470

Max Magnitude

6.2

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	rs397516470(-;-)
Alt	rs397516470(-;-)
Reference	Rs397516470(GAG;GAG)
Significance	Other
Disease	Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3
Variation	info
Gene	TNNT2
CLNDBN	Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3
Reversed	1
HGVS	NC_000001.10:g.201332505_201332507delCTC
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000211867.2, RCV000459834.1,