rs370828455
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a spastic paraplegia type 15 mutation |
| Make rs370828455(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 14 |
| Position | 67782971 |
| Gene | ZFYVE26 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs370828455 |
| dbSNP (classic) | rs370828455 |
| ClinGen | rs370828455 |
| ebi | rs370828455 |
| HLI | rs370828455 |
| Exac | rs370828455 |
| Gnomad | rs370828455 |
| Varsome | rs370828455 |
| LitVar | rs370828455 |
| Map | rs370828455 |
| PheGenI | rs370828455 |
| Biobank | rs370828455 |
| 1000 genomes | rs370828455 |
| hgdp | rs370828455 |
| ensembl | rs370828455 |
| geneview | rs370828455 |
| scholar | rs370828455 |
| rs370828455 | |
| pharmgkb | rs370828455 |
| gwascentral | rs370828455 |
| openSNP | rs370828455 |
| 23andMe | rs370828455 |
| SNPshot | rs370828455 |
| SNPdbe | rs370828455 |
| MSV3d | rs370828455 |
| GWAS Ctlg | rs370828455 |
| Max Magnitude | 3 |
aka c.4181G>A, p.Trp1394Ter and W1394X
see ZFYVE26
| ClinVar | |
|---|---|
| Risk | rs370828455(T;T) |
| Alt | rs370828455(T;T) |
| Reference | Rs370828455(C;C) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia 15 |
| Variation | info |
| Gene | ZFYVE26 |
| CLNDBN | Spastic paraplegia 15 |
| Reversed | 0 |
| HGVS | NC_000014.8:g.68249688C>T |
| CLNSRC | Baylor College of Medicine |
| CLNACC | RCV000191149.1, |
