rs371725574
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs371725574(C;T) |
| Make rs371725574(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 2 |
| Position | 178684990 |
| Gene | TTN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs371725574 |
| dbSNP (classic) | rs371725574 |
| ClinGen | rs371725574 |
| ebi | rs371725574 |
| HLI | rs371725574 |
| Exac | rs371725574 |
| Gnomad | rs371725574 |
| Varsome | rs371725574 |
| LitVar | rs371725574 |
| Map | rs371725574 |
| PheGenI | rs371725574 |
| Biobank | rs371725574 |
| 1000 genomes | rs371725574 |
| hgdp | rs371725574 |
| ensembl | rs371725574 |
| geneview | rs371725574 |
| scholar | rs371725574 |
| rs371725574 | |
| pharmgkb | rs371725574 |
| gwascentral | rs371725574 |
| openSNP | rs371725574 |
| 23andMe | rs371725574 |
| SNPshot | rs371725574 |
| SNPdbe | rs371725574 |
| MSV3d | rs371725574 |
| GWAS Ctlg | rs371725574 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs371725574(T;T) |
| Alt | rs371725574(T;T) |
| Reference | Rs371725574(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not specified Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | TTN |
| CLNDBN | not specified Limb-girdle muscular dystrophy, type 2J |
| Reversed | 0 |
| HGVS | NC_000002.11:g.179549717C>T |
| CLNSRC | |
| CLNACC | RCV000174435.1, RCV000228520.1, |
