rs483352835
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs483352835(C;T) |
| Make rs483352835(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 201362395 |
| Gene | TNNT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs483352835 |
| dbSNP (classic) | rs483352835 |
| ClinGen | rs483352835 |
| ebi | rs483352835 |
| HLI | rs483352835 |
| Exac | rs483352835 |
| Gnomad | rs483352835 |
| Varsome | rs483352835 |
| LitVar | rs483352835 |
| Map | rs483352835 |
| PheGenI | rs483352835 |
| Biobank | rs483352835 |
| 1000 genomes | rs483352835 |
| hgdp | rs483352835 |
| ensembl | rs483352835 |
| geneview | rs483352835 |
| scholar | rs483352835 |
| rs483352835 | |
| pharmgkb | rs483352835 |
| gwascentral | rs483352835 |
| openSNP | rs483352835 |
| 23andMe | rs483352835 |
| SNPshot | rs483352835 |
| SNPdbe | rs483352835 |
| MSV3d | rs483352835 |
| GWAS Ctlg | rs483352835 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs483352835(T;T) |
| Alt | rs483352835(T;T) |
| Reference | Rs483352835(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Dilated cardiomyopathy 1DD not specified not provided Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
| Variation | info |
| Gene | TNNT2 |
| CLNDBN | Dilated cardiomyopathy 1DD not specified not provided Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.201331523C>T |
| CLNSRC | |
| CLNACC | RCV000119341.2, RCV000159305.2, RCV000223749.1, RCV000475521.1, |
