rs78122364
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs78122364(C;T) |
| Make rs78122364(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 100824682 |
| Gene | PAX2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78122364 |
| dbSNP (classic) | rs78122364 |
| ClinGen | rs78122364 |
| ebi | rs78122364 |
| HLI | rs78122364 |
| Exac | rs78122364 |
| Gnomad | rs78122364 |
| Varsome | rs78122364 |
| LitVar | rs78122364 |
| Map | rs78122364 |
| PheGenI | rs78122364 |
| Biobank | rs78122364 |
| 1000 genomes | rs78122364 |
| hgdp | rs78122364 |
| ensembl | rs78122364 |
| geneview | rs78122364 |
| scholar | rs78122364 |
| rs78122364 | |
| pharmgkb | rs78122364 |
| gwascentral | rs78122364 |
| openSNP | rs78122364 |
| 23andMe | rs78122364 |
| SNPshot | rs78122364 |
| SNPdbe | rs78122364 |
| MSV3d | rs78122364 |
| GWAS Ctlg | rs78122364 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs78122364(A;A) rs78122364(T;T) |
| Alt | rs78122364(A;A) rs78122364(T;T) |
| Reference | Rs78122364(C;C) |
| Significance | Pathogenic |
| Disease | Renal coloboma syndrome |
| Variation | info |
| Gene | PAX2 |
| CLNDBN | Renal coloboma syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.102584439C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014814.25, |
