rs77777862
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| Make rs77777862(-;-) |
| Make rs77777862(-;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 100781310 |
| Gene | PAX2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77777862 |
| dbSNP (classic) | rs77777862 |
| ClinGen | rs77777862 |
| ebi | rs77777862 |
| HLI | rs77777862 |
| Exac | rs77777862 |
| Gnomad | rs77777862 |
| Varsome | rs77777862 |
| LitVar | rs77777862 |
| Map | rs77777862 |
| PheGenI | rs77777862 |
| Biobank | rs77777862 |
| 1000 genomes | rs77777862 |
| hgdp | rs77777862 |
| ensembl | rs77777862 |
| geneview | rs77777862 |
| scholar | rs77777862 |
| rs77777862 | |
| pharmgkb | rs77777862 |
| gwascentral | rs77777862 |
| openSNP | rs77777862 |
| 23andMe | rs77777862 |
| SNPshot | rs77777862 |
| SNPdbe | rs77777862 |
| MSV3d | rs77777862 |
| GWAS Ctlg | rs77777862 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77777862(-;-) |
| Alt | rs77777862(-;-) |
| Reference | Rs77777862(C;C) |
| Significance | Pathogenic |
| Disease | Renal coloboma syndrome |
| Variation | info |
| Gene | PAX2 |
| CLNDBN | Renal coloboma syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.102541067delC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014805.25, |
