rs121964856

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	Familial hypertrophic cardiomyopathy (possible)
(C;T)	7	Hypertrophic Cardiomyopathy
(G;G)	0	common in clinvar

Make rs121964856(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

201365297

Gene

TNNT2

is a	snp
is	mentioned by
dbSNP	rs121964856
dbSNP (classic)	rs121964856
ClinGen	rs121964856
ebi	rs121964856
HLI	rs121964856
Exac	rs121964856
Gnomad	rs121964856
Varsome	rs121964856
LitVar	rs121964856
Map	rs121964856
PheGenI	rs121964856
Biobank	rs121964856
1000 genomes	rs121964856
hgdp	rs121964856
ensembl	rs121964856
geneview	rs121964856
scholar	rs121964856
google	rs121964856
pharmgkb	rs121964856
gwascentral	rs121964856
openSNP	rs121964856
23andMe	rs121964856
SNPshot	rs121964856
SNPdbe	rs121964856
MSV3d	rs121964856
GWAS Ctlg	rs121964856

Max Magnitude

7

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].

OMIM	191045
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121964856(A;A) rs121964856(T;T)
Alt	rs121964856(A;A) rs121964856(T;T)
Reference	Rs121964856(G;G)
Significance	Other
Disease	not provided Familial hypertrophic cardiomyopathy 2 Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	TNNT2
CLNDBN	not provided Familial hypertrophic cardiomyopathy 2 Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000001.10:g.201334425C>A; NC_000001.10:g.201334425C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000223821.1, RCV000013220.21, RCV000159281.4, RCV000211865.1,