rs121964855

Orientation

minus

Stabilized

minus

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

Make rs121964855(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

201365638

Gene

TNNT2

is a	snp
is	mentioned by
dbSNP	rs121964855
dbSNP (classic)	rs121964855
ClinGen	rs121964855
ebi	rs121964855
HLI	rs121964855
Exac	rs121964855
Gnomad	rs121964855
Varsome	rs121964855
LitVar	rs121964855
Map	rs121964855
PheGenI	rs121964855
Biobank	rs121964855
1000 genomes	rs121964855
hgdp	rs121964855
ensembl	rs121964855
geneview	rs121964855
scholar	rs121964855
google	rs121964855
pharmgkb	rs121964855
gwascentral	rs121964855
openSNP	rs121964855
23andMe	rs121964855
SNPshot	rs121964855
SNPdbe	rs121964855
MSV3d	rs121964855
GWAS Ctlg	rs121964855

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].

OMIM	191045
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121964855(A;A)
Alt	rs121964855(A;A)
Reference	Rs121964855(T;T)
Significance	Other
Disease	Familial hypertrophic cardiomyopathy 2 Left ventricular noncompaction 6 Familial restrictive cardiomyopathy 3 not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Variation	info
Gene	TNNT2
CLNDBN	Familial hypertrophic cardiomyopathy 2 Left ventricular noncompaction 6 Familial restrictive cardiomyopathy 3 not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed	1
HGVS	NC_000001.10:g.201334766A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013217.29, RCV000013218.16, RCV000013219.23, RCV000159272.2, RCV000211864.2, RCV000243910.1,