rs727504246

Orientation

minus

Stabilized

minus

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

Make rs727504246(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

201363330

Gene

TNNT2

is a	snp
is	mentioned by
dbSNP	rs727504246
dbSNP (classic)	rs727504246
ClinGen	rs727504246
ebi	rs727504246
HLI	rs727504246
Exac	rs727504246
Gnomad	rs727504246
Varsome	rs727504246
LitVar	rs727504246
Map	rs727504246
PheGenI	rs727504246
Biobank	rs727504246
1000 genomes	rs727504246
hgdp	rs727504246
ensembl	rs727504246
geneview	rs727504246
scholar	rs727504246
google	rs727504246
pharmgkb	rs727504246
gwascentral	rs727504246
openSNP	rs727504246
23andMe	rs727504246
SNPshot	rs727504246
SNPdbe	rs727504246
MSV3d	rs727504246
GWAS Ctlg	rs727504246

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	rs727504246(T;T)
Alt	rs727504246(T;T)
Reference	Rs727504246(C;C)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2
Variation	info
Gene	TNNT2
CLNDBN	Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2
Reversed	1
HGVS	NC_000001.10:g.201332458G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000154216.1, RCV000471745.1,