rs727504255

Orientation

minus

Stabilized

minus

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

Make rs727504255(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

201365630

Gene

TNNT2

is a	snp
is	mentioned by
dbSNP	rs727504255
dbSNP (classic)	rs727504255
ClinGen	rs727504255
ebi	rs727504255
HLI	rs727504255
Exac	rs727504255
Gnomad	rs727504255
Varsome	rs727504255
LitVar	rs727504255
Map	rs727504255
PheGenI	rs727504255
Biobank	rs727504255
1000 genomes	rs727504255
hgdp	rs727504255
ensembl	rs727504255
geneview	rs727504255
scholar	rs727504255
google	rs727504255
pharmgkb	rs727504255
gwascentral	rs727504255
openSNP	rs727504255
23andMe	rs727504255
SNPshot	rs727504255
SNPdbe	rs727504255
MSV3d	rs727504255
GWAS Ctlg	rs727504255

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	rs727504255(A;A)
Alt	rs727504255(A;A)
Reference	Rs727504255(G;G)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided
Variation	info
Gene	TNNT2
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided
Reversed	1
HGVS	NC_000001.10:g.201334758C>T
CLNSRC
CLNACC	RCV000154228.2, RCV000159274.1,