rs727504245
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727504245(C;T) |
Make rs727504245(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 201365261 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs727504245 |
dbSNP (classic) | rs727504245 |
ClinGen | rs727504245 |
ebi | rs727504245 |
HLI | rs727504245 |
Exac | rs727504245 |
Gnomad | rs727504245 |
Varsome | rs727504245 |
LitVar | rs727504245 |
Map | rs727504245 |
PheGenI | rs727504245 |
Biobank | rs727504245 |
1000 genomes | rs727504245 |
hgdp | rs727504245 |
ensembl | rs727504245 |
geneview | rs727504245 |
scholar | rs727504245 |
rs727504245 | |
pharmgkb | rs727504245 |
gwascentral | rs727504245 |
openSNP | rs727504245 |
23andMe | rs727504245 |
SNPshot | rs727504245 |
SNPdbe | rs727504245 |
MSV3d | rs727504245 |
GWAS Ctlg | rs727504245 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504245(T;T) |
Alt | rs727504245(T;T) |
Reference | Rs727504245(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
Variation | info |
Gene | TNNT2 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
Reversed | 1 |
HGVS | NC_000001.10:g.201334389G>A |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000154215.2, RCV000168965.2, RCV000476946.1, |