rs748600162
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs748600162(C;T) |
| Make rs748600162(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 89548036 |
| Gene | SPG7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs748600162 |
| dbSNP (classic) | rs748600162 |
| ClinGen | rs748600162 |
| ebi | rs748600162 |
| HLI | rs748600162 |
| Exac | rs748600162 |
| Gnomad | rs748600162 |
| Varsome | rs748600162 |
| LitVar | rs748600162 |
| Map | rs748600162 |
| PheGenI | rs748600162 |
| Biobank | rs748600162 |
| 1000 genomes | rs748600162 |
| hgdp | rs748600162 |
| ensembl | rs748600162 |
| geneview | rs748600162 |
| scholar | rs748600162 |
| rs748600162 | |
| pharmgkb | rs748600162 |
| gwascentral | rs748600162 |
| openSNP | rs748600162 |
| 23andMe | rs748600162 |
| SNPshot | rs748600162 |
| SNPdbe | rs748600162 |
| MSV3d | rs748600162 |
| GWAS Ctlg | rs748600162 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs748600162(T;T) |
| Alt | rs748600162(T;T) |
| Reference | Rs748600162(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | RPL13 SPG7 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.89614444C>T |
| CLNSRC | |
| CLNACC | RCV000199550.2, |
