rs375159973
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs375159973(A;G) |
| Make rs375159973(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 178534401 |
| Gene | TTN, TTN-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375159973 |
| dbSNP (classic) | rs375159973 |
| ClinGen | rs375159973 |
| ebi | rs375159973 |
| HLI | rs375159973 |
| Exac | rs375159973 |
| Gnomad | rs375159973 |
| Varsome | rs375159973 |
| LitVar | rs375159973 |
| Map | rs375159973 |
| PheGenI | rs375159973 |
| Biobank | rs375159973 |
| 1000 genomes | rs375159973 |
| hgdp | rs375159973 |
| ensembl | rs375159973 |
| geneview | rs375159973 |
| scholar | rs375159973 |
| rs375159973 | |
| pharmgkb | rs375159973 |
| gwascentral | rs375159973 |
| openSNP | rs375159973 |
| 23andMe | rs375159973 |
| SNPshot | rs375159973 |
| SNPdbe | rs375159973 |
| MSV3d | rs375159973 |
| GWAS Ctlg | rs375159973 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375159973(G;G) |
| Alt | rs375159973(G;G) |
| Reference | Rs375159973(A;A) |
| Significance | Pathogenic |
| Disease | Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Myopathy |
| Variation | info |
| Gene | TTN TTN-AS1 |
| CLNDBN | Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000002.11:g.179399128A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000472652.1, RCV000490792.1, |
