rs759639123
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (G;G) | 0 | common in clinvar |
| Make rs759639123(-;CAGCGGGG) |
| Make rs759639123(CAGCGGGG;CAGCGGGG) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 131556270 |
| Gene | PODXL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs759639123 |
| dbSNP (classic) | rs759639123 |
| ClinGen | rs759639123 |
| ebi | rs759639123 |
| HLI | rs759639123 |
| Exac | rs759639123 |
| Gnomad | rs759639123 |
| Varsome | rs759639123 |
| LitVar | rs759639123 |
| Map | rs759639123 |
| PheGenI | rs759639123 |
| Biobank | rs759639123 |
| 1000 genomes | rs759639123 |
| hgdp | rs759639123 |
| ensembl | rs759639123 |
| geneview | rs759639123 |
| scholar | rs759639123 |
| rs759639123 | |
| pharmgkb | rs759639123 |
| gwascentral | rs759639123 |
| openSNP | rs759639123 |
| 23andMe | rs759639123 |
| SNPshot | rs759639123 |
| SNPdbe | rs759639123 |
| MSV3d | rs759639123 |
| GWAS Ctlg | rs759639123 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs759639123(GGCGAC;GGCGAC) rs759639123(GGCGACGGCGAC;GGCGACGGCGAC) rs759639123(GGCGACGGCGACGGCGACGGC;GGCGACGGCGACGGCGACGGC) rs759639123(GGGGCGAC;GGGGCGAC) |
| Alt | rs759639123(GGCGAC;GGCGAC) rs759639123(GGCGACGGCGAC;GGCGACGGCGAC) rs759639123(GGCGACGGCGACGGCGACGGC;GGCGACGGCGACGGCGACGGC) rs759639123(GGGGCGAC;GGGGCGAC) |
| Reference | Rs759639123(-;-) |
| Significance | Probable-Pathogenic |
| Disease | Parkinson disease 2 |
| Variation | info |
| Gene | PODXL |
| CLNDBN | Parkinson disease 2 |
| Reversed | 0 |
| HGVS | NC_000007.13:g.131241029_131241030insGGGGCGAC |
| CLNSRC | |
| CLNACC | RCV000210039.1, |
