rs727503512
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs727503512(C;G) |
| Make rs727503512(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 201363349 |
| Gene | TNNT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727503512 |
| dbSNP (classic) | rs727503512 |
| ClinGen | rs727503512 |
| ebi | rs727503512 |
| HLI | rs727503512 |
| Exac | rs727503512 |
| Gnomad | rs727503512 |
| Varsome | rs727503512 |
| LitVar | rs727503512 |
| Map | rs727503512 |
| PheGenI | rs727503512 |
| Biobank | rs727503512 |
| 1000 genomes | rs727503512 |
| hgdp | rs727503512 |
| ensembl | rs727503512 |
| geneview | rs727503512 |
| scholar | rs727503512 |
| rs727503512 | |
| pharmgkb | rs727503512 |
| gwascentral | rs727503512 |
| openSNP | rs727503512 |
| 23andMe | rs727503512 |
| SNPshot | rs727503512 |
| SNPdbe | rs727503512 |
| MSV3d | rs727503512 |
| GWAS Ctlg | rs727503512 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs727503512(G;G) rs727503512(T;T) |
| Alt | rs727503512(G;G) rs727503512(T;T) |
| Reference | Rs727503512(C;C) |
| Significance | Pathogenic |
| Disease | Primary dilated cardiomyopathy not provided Left ventricular noncompaction 6 not specified |
| Variation | info |
| Gene | TNNT2 |
| CLNDBN | Primary dilated cardiomyopathy not provided Left ventricular noncompaction 6 not specified |
| Reversed | 1 |
| HGVS | NC_000001.10:g.201332477G>A; NC_000001.10:g.201332477G>C |
| CLNSRC | |
| CLNACC | RCV000223622.1, RCV000223699.1, RCV000474826.1, RCV000152100.1, |
