rs386576623
From SNPedia
| Merged into | rs28934877 |
| Orientation | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs386576623(A;G) |
| Make rs386576623(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 233768333 |
| Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386576623 |
| dbSNP (classic) | rs386576623 |
| ClinGen | rs386576623 |
| ebi | rs386576623 |
| HLI | rs386576623 |
| Exac | rs386576623 |
| Gnomad | rs386576623 |
| Varsome | rs386576623 |
| LitVar | rs386576623 |
| Map | rs386576623 |
| PheGenI | rs386576623 |
| Biobank | rs386576623 |
| 1000 genomes | rs386576623 |
| hgdp | rs386576623 |
| ensembl | rs386576623 |
| geneview | rs386576623 |
| scholar | rs386576623 |
| rs386576623 | |
| pharmgkb | rs386576623 |
| gwascentral | rs386576623 |
| openSNP | rs386576623 |
| 23andMe | rs386576623 |
| SNPshot | rs386576623 |
| SNPdbe | rs386576623 |
| MSV3d | rs386576623 |
| GWAS Ctlg | rs386576623 |
| Status | Merged into rs28934877 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386576623(G;G) |
| Alt | rs386576623(G;G) |
| Reference | Rs386576623(A;A) |
| Significance | Pathogenic |
| Disease | Crigler-Najjar syndrome Gilbert's syndrome |
| Variation | info |
| Gene | UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A8 UGT1A10 UGT1A7 |
| CLNDBN | Crigler-Najjar syndrome, type II Gilbert's syndrome |
| Reversed | 0 |
| HGVS | NC_000002.12:g.233768333A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013079.15, RCV000013080.22, |
