rs690016545
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs690016545(A;A) |
| Make rs690016545(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 57567598 |
| Gene | KIF5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs690016545 |
| dbSNP (classic) | rs690016545 |
| ClinGen | rs690016545 |
| ebi | rs690016545 |
| HLI | rs690016545 |
| Exac | rs690016545 |
| Gnomad | rs690016545 |
| Varsome | rs690016545 |
| LitVar | rs690016545 |
| Map | rs690016545 |
| PheGenI | rs690016545 |
| Biobank | rs690016545 |
| 1000 genomes | rs690016545 |
| hgdp | rs690016545 |
| ensembl | rs690016545 |
| geneview | rs690016545 |
| scholar | rs690016545 |
| rs690016545 | |
| pharmgkb | rs690016545 |
| gwascentral | rs690016545 |
| openSNP | rs690016545 |
| 23andMe | rs690016545 |
| SNPshot | rs690016545 |
| SNPdbe | rs690016545 |
| MSV3d | rs690016545 |
| GWAS Ctlg | rs690016545 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs690016545(A;A) |
| Alt | rs690016545(A;A) |
| Reference | Rs690016545(G;G) |
| Significance | Pathogenic |
| Disease | Spastic paraplegia 10 |
| Variation | info |
| Gene | KIF5A |
| CLNDBN | Spastic paraplegia 10 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.57961381G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000149510.4, |
