rs121964856
From SNPedia
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 |
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].
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, |