rs727504331

Orientation

minus

Stabilized

minus

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

Make rs727504331(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

201365242

Gene

TNNT2

is a	snp
is	mentioned by
dbSNP	rs727504331
dbSNP (classic)	rs727504331
ClinGen	rs727504331
ebi	rs727504331
HLI	rs727504331
Exac	rs727504331
Gnomad	rs727504331
Varsome	rs727504331
LitVar	rs727504331
Map	rs727504331
PheGenI	rs727504331
Biobank	rs727504331
1000 genomes	rs727504331
hgdp	rs727504331
ensembl	rs727504331
geneview	rs727504331
scholar	rs727504331
google	rs727504331
pharmgkb	rs727504331
gwascentral	rs727504331
openSNP	rs727504331
23andMe	rs727504331
SNPshot	rs727504331
SNPdbe	rs727504331
MSV3d	rs727504331
GWAS Ctlg	rs727504331

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	rs727504331(G;G)
Alt	rs727504331(G;G)
Reference	Rs727504331(T;T)
Significance	Probable-Pathogenic
Disease	not provided Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	TNNT2
CLNDBN	not provided Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000001.10:g.201334370A>C
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000159288.3, RCV000211744.1,