rs782488388
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (C;C) | 0 | common in clinvar |
| Make rs782488388(-;AGACGT) |
| Make rs782488388(AGACGT;AGACGT) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 133352075 |
| Gene | SURF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs782488388 |
| dbSNP (classic) | rs782488388 |
| ClinGen | rs782488388 |
| ebi | rs782488388 |
| HLI | rs782488388 |
| Exac | rs782488388 |
| Gnomad | rs782488388 |
| Varsome | rs782488388 |
| LitVar | rs782488388 |
| Map | rs782488388 |
| PheGenI | rs782488388 |
| Biobank | rs782488388 |
| 1000 genomes | rs782488388 |
| hgdp | rs782488388 |
| ensembl | rs782488388 |
| geneview | rs782488388 |
| scholar | rs782488388 |
| rs782488388 | |
| pharmgkb | rs782488388 |
| gwascentral | rs782488388 |
| openSNP | rs782488388 |
| 23andMe | rs782488388 |
| SNPshot | rs782488388 |
| SNPdbe | rs782488388 |
| MSV3d | rs782488388 |
| GWAS Ctlg | rs782488388 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs782488388(T;T) rs782488388(TGCAGA;TGCAGA) |
| Alt | rs782488388(T;T) rs782488388(TGCAGA;TGCAGA) |
| Reference | Rs782488388(-;-) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | SURF1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.136218931_136218936dupTGCAGA |
| CLNSRC | |
| CLNACC | RCV000196024.1, |
