rs141121678
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs141121678(A;A) |
Make rs141121678(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 201359220 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs141121678 |
dbSNP (classic) | rs141121678 |
ClinGen | rs141121678 |
ebi | rs141121678 |
HLI | rs141121678 |
Exac | rs141121678 |
Gnomad | rs141121678 |
Varsome | rs141121678 |
LitVar | rs141121678 |
Map | rs141121678 |
PheGenI | rs141121678 |
Biobank | rs141121678 |
1000 genomes | rs141121678 |
hgdp | rs141121678 |
ensembl | rs141121678 |
geneview | rs141121678 |
scholar | rs141121678 |
rs141121678 | |
pharmgkb | rs141121678 |
gwascentral | rs141121678 |
openSNP | rs141121678 |
23andMe | rs141121678 |
SNPshot | rs141121678 |
SNPdbe | rs141121678 |
MSV3d | rs141121678 |
GWAS Ctlg | rs141121678 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141121678(A;A) rs141121678(T;T) |
Alt | rs141121678(A;A) rs141121678(T;T) |
Reference | Rs141121678(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
Variation | info |
Gene | TNNT2 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
Reversed | 0 |
HGVS | NC_000001.10:g.201328348C>T |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000036626.3, RCV000148899.2, RCV000223838.1, RCV000245252.1, RCV000459071.1, |