rs139517732
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs139517732(C;T) |
| Make rs139517732(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 178802273 |
| Gene | TTN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs139517732 |
| dbSNP (classic) | rs139517732 |
| ClinGen | rs139517732 |
| ebi | rs139517732 |
| HLI | rs139517732 |
| Exac | rs139517732 |
| Gnomad | rs139517732 |
| Varsome | rs139517732 |
| LitVar | rs139517732 |
| Map | rs139517732 |
| PheGenI | rs139517732 |
| Biobank | rs139517732 |
| 1000 genomes | rs139517732 |
| hgdp | rs139517732 |
| ensembl | rs139517732 |
| geneview | rs139517732 |
| scholar | rs139517732 |
| rs139517732 | |
| pharmgkb | rs139517732 |
| gwascentral | rs139517732 |
| openSNP | rs139517732 |
| 23andMe | rs139517732 |
| SNPshot | rs139517732 |
| SNPdbe | rs139517732 |
| MSV3d | rs139517732 |
| GWAS Ctlg | rs139517732 |
| GMAF | 0.001837 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs139517732(T;T) |
| Alt | rs139517732(T;T) |
| Reference | Rs139517732(C;C) |
| Significance | Pathogenic |
| Disease | Dilated cardiomyopathy 1G |
| Variation | info |
| Gene | TTN |
| CLNDBN | Dilated cardiomyopathy 1G |
| Reversed | 0 |
| HGVS | NC_000002.11:g.179667000C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013492.18, |
