rs1060500435
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6 | Dilated cardiomyopathy and/or early-onset atrial fibrillation (predicted) |
| Make rs1060500435(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 178546612 |
| Gene | TTN, TTN-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1060500435 |
| dbSNP (classic) | rs1060500435 |
| ClinGen | rs1060500435 |
| ebi | rs1060500435 |
| HLI | rs1060500435 |
| Exac | rs1060500435 |
| Gnomad | rs1060500435 |
| Varsome | rs1060500435 |
| LitVar | rs1060500435 |
| Map | rs1060500435 |
| PheGenI | rs1060500435 |
| Biobank | rs1060500435 |
| 1000 genomes | rs1060500435 |
| hgdp | rs1060500435 |
| ensembl | rs1060500435 |
| geneview | rs1060500435 |
| scholar | rs1060500435 |
| rs1060500435 | |
| pharmgkb | rs1060500435 |
| gwascentral | rs1060500435 |
| openSNP | rs1060500435 |
| 23andMe | rs1060500435 |
| SNPshot | rs1060500435 |
| SNPdbe | rs1060500435 |
| MSV3d | rs1060500435 |
| GWAS Ctlg | rs1060500435 |
| Max Magnitude | 6 |
aka c.94816C>T (p.Arg31606Ter)
This mutation is considered in ClinVar to be a dominantly inherited mutation leading to either dilated cardiomyopathy or very early-onset atrial fibrillation; see also [PMID 31638414
]
| ClinVar | |
|---|---|
| Risk | rs1060500435(T;T) |
| Alt | rs1060500435(T;T) |
| Reference | Rs1060500435(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Dilated cardiomyopathy 1G |
| Variation | info |
| Gene | TTN TTN-AS1 |
| CLNDBN | Dilated cardiomyopathy 1G |
| Reversed | 1 |
| HGVS | NC_000002.11:g.179411339G>A |
| CLNSRC | |
| CLNACC | RCV000475125.1, |
