rs281865418
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs281865418(C;G) |
| Make rs281865418(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 233761127 |
| Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281865418 |
| dbSNP (classic) | rs281865418 |
| ClinGen | rs281865418 |
| ebi | rs281865418 |
| HLI | rs281865418 |
| Exac | rs281865418 |
| Gnomad | rs281865418 |
| Varsome | rs281865418 |
| LitVar | rs281865418 |
| Map | rs281865418 |
| PheGenI | rs281865418 |
| Biobank | rs281865418 |
| 1000 genomes | rs281865418 |
| hgdp | rs281865418 |
| ensembl | rs281865418 |
| geneview | rs281865418 |
| scholar | rs281865418 |
| rs281865418 | |
| pharmgkb | rs281865418 |
| gwascentral | rs281865418 |
| openSNP | rs281865418 |
| 23andMe | rs281865418 |
| SNPshot | rs281865418 |
| SNPdbe | rs281865418 |
| MSV3d | rs281865418 |
| GWAS Ctlg | rs281865418 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281865418(A;A) rs281865418(G;G) |
| Alt | rs281865418(A;A) rs281865418(G;G) |
| Reference | Rs281865418(C;C) |
| Significance | Pathogenic |
| Disease | Crigler Najjar syndrome |
| Variation | info |
| Gene | UGT1A5 UGT1A3 UGT1A9 UGT1A6 UGT1A4 UGT1A1 UGT1A8 UGT1A10 UGT1A7 |
| CLNDBN | Crigler Najjar syndrome, type 1 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.234669773C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013061.25, |
