rs75462234
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs75462234(-;-) |
| Make rs75462234(-;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 100749778 |
| Gene | PAX2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75462234 |
| dbSNP (classic) | rs75462234 |
| ClinGen | rs75462234 |
| ebi | rs75462234 |
| HLI | rs75462234 |
| Exac | rs75462234 |
| Gnomad | rs75462234 |
| Varsome | rs75462234 |
| LitVar | rs75462234 |
| Map | rs75462234 |
| PheGenI | rs75462234 |
| Biobank | rs75462234 |
| 1000 genomes | rs75462234 |
| hgdp | rs75462234 |
| ensembl | rs75462234 |
| geneview | rs75462234 |
| scholar | rs75462234 |
| rs75462234 | |
| pharmgkb | rs75462234 |
| gwascentral | rs75462234 |
| openSNP | rs75462234 |
| 23andMe | rs75462234 |
| SNPshot | rs75462234 |
| SNPdbe | rs75462234 |
| MSV3d | rs75462234 |
| GWAS Ctlg | rs75462234 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs75462234(-;-) |
| Alt | rs75462234(-;-) |
| Reference | Rs75462234(G;G) |
| Significance | Pathogenic |
| Disease | Renal coloboma syndrome |
| Variation | info |
| Gene | PAX2 |
| CLNDBN | Renal coloboma syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.102509535delG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014812.25, |
