rs111033539
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs111033539(C;T) |
| Make rs111033539(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 233767160 |
| Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033539 |
| dbSNP (classic) | rs111033539 |
| ClinGen | rs111033539 |
| ebi | rs111033539 |
| HLI | rs111033539 |
| Exac | rs111033539 |
| Gnomad | rs111033539 |
| Varsome | rs111033539 |
| LitVar | rs111033539 |
| Map | rs111033539 |
| PheGenI | rs111033539 |
| Biobank | rs111033539 |
| 1000 genomes | rs111033539 |
| hgdp | rs111033539 |
| ensembl | rs111033539 |
| geneview | rs111033539 |
| scholar | rs111033539 |
| rs111033539 | |
| pharmgkb | rs111033539 |
| gwascentral | rs111033539 |
| openSNP | rs111033539 |
| 23andMe | rs111033539 |
| SNPshot | rs111033539 |
| SNPdbe | rs111033539 |
| MSV3d | rs111033539 |
| GWAS Ctlg | rs111033539 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033539(T;T) |
| Alt | rs111033539(T;T) |
| Reference | Rs111033539(C;C) |
| Significance | Pathogenic |
| Disease | Crigler Najjar syndrome |
| Variation | info |
| Gene | UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7 |
| CLNDBN | Crigler Najjar syndrome, type 1 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.234675806C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013055.22, |
