rs727504275

Orientation

minus

Stabilized

minus

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

Make rs727504275(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

55151856

Gene

TNNI3

is a	snp
is	mentioned by
dbSNP	rs727504275
dbSNP (classic)	rs727504275
ClinGen	rs727504275
ebi	rs727504275
HLI	rs727504275
Exac	rs727504275
Gnomad	rs727504275
Varsome	rs727504275
LitVar	rs727504275
Map	rs727504275
PheGenI	rs727504275
Biobank	rs727504275
1000 genomes	rs727504275
hgdp	rs727504275
ensembl	rs727504275
geneview	rs727504275
scholar	rs727504275
google	rs727504275
pharmgkb	rs727504275
gwascentral	rs727504275
openSNP	rs727504275
23andMe	rs727504275
SNPshot	rs727504275
SNPdbe	rs727504275
MSV3d	rs727504275
GWAS Ctlg	rs727504275

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	rs727504275(A;A) rs727504275(T;T)
Alt	rs727504275(A;A) rs727504275(T;T)
Reference	Rs727504275(G;G)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation	info
Gene	TNNI3
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000019.9:g.55663224C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000154276.2, RCV000159249.3, RCV000469008.1,