rs121964858

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;T)	6.2	Familial Hypertrophic Cardiomyopathy
(T;T)	0	common in clinvar

Make rs121964858(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

201365244

Gene

TNNT2

is a	snp
is	mentioned by
dbSNP	rs121964858
dbSNP (classic)	rs121964858
ClinGen	rs121964858
ebi	rs121964858
HLI	rs121964858
Exac	rs121964858
Gnomad	rs121964858
Varsome	rs121964858
LitVar	rs121964858
Map	rs121964858
PheGenI	rs121964858
Biobank	rs121964858
1000 genomes	rs121964858
hgdp	rs121964858
ensembl	rs121964858
geneview	rs121964858
scholar	rs121964858
google	rs121964858
pharmgkb	rs121964858
gwascentral	rs121964858
openSNP	rs121964858
23andMe	rs121964858
SNPshot	rs121964858
SNPdbe	rs121964858
MSV3d	rs121964858
GWAS Ctlg	rs121964858

Max Magnitude

6.2

OMIM	191045
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121964858(A;A) rs121964858(C;C) rs121964858(G;G)
Alt	rs121964858(A;A) rs121964858(C;C) rs121964858(G;G)
Reference	Rs121964858(T;T)
Significance	Pathogenic
Disease	not specified not provided Familial hypertrophic cardiomyopathy 2
Variation	info
Gene	TNNT2
CLNDBN	not specified not provided Familial hypertrophic cardiomyopathy 2
Reversed	1
HGVS	NC_000001.10:g.201334372A>C; NC_000001.10:g.201334372A>G; NC_000001.10:g.201334372A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000223859.1, RCV000223771.1, RCV000013223.16, RCV000223682.1,