rs397516354

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	Familial hypertrophic cardiomyopathy (possible)
(G;G)	0	common in clinvar
(G;T)	6.2	Familial Hypertrophic Cardiomyopathy

Make rs397516354(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

55154094

Gene

TNNI3

is a	snp
is	mentioned by
dbSNP	rs397516354
dbSNP (classic)	rs397516354
ClinGen	rs397516354
ebi	rs397516354
HLI	rs397516354
Exac	rs397516354
Gnomad	rs397516354
Varsome	rs397516354
LitVar	rs397516354
Map	rs397516354
PheGenI	rs397516354
Biobank	rs397516354
1000 genomes	rs397516354
hgdp	rs397516354
ensembl	rs397516354
geneview	rs397516354
scholar	rs397516354
google	rs397516354
pharmgkb	rs397516354
gwascentral	rs397516354
openSNP	rs397516354
23andMe	rs397516354
SNPshot	rs397516354
SNPdbe	rs397516354
MSV3d	rs397516354
GWAS Ctlg	rs397516354

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	rs397516354(A;A) rs397516354(C;C)
Alt	rs397516354(A;A) rs397516354(C;C)
Reference	Rs397516354(G;G)
Significance	Other
Disease	Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Dilated cardiomyopathy 1FF Dilated cardiomyopathy 2A Familial hypertrophic cardiomyopathy 7 Familial restrictive cardiomyopathy 1
Variation	info
Gene	TNNI3
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Dilated cardiomyopathy 1FF Dilated cardiomyopathy 2A Familial hypertrophic cardiomyopathy 7 Familial restrictive cardiomyopathy 1
Reversed	1
HGVS	NC_000019.9:g.55665462C>G; NC_000019.9:g.55665462C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000036301.3, RCV000159229.4, RCV000197981.4, RCV000208428.2, RCV000477941.1,