rs72551350
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs72551350(C;T) |
| Make rs72551350(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 233767921 |
| Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72551350 |
| dbSNP (classic) | rs72551350 |
| ClinGen | rs72551350 |
| ebi | rs72551350 |
| HLI | rs72551350 |
| Exac | rs72551350 |
| Gnomad | rs72551350 |
| Varsome | rs72551350 |
| LitVar | rs72551350 |
| Map | rs72551350 |
| PheGenI | rs72551350 |
| Biobank | rs72551350 |
| 1000 genomes | rs72551350 |
| hgdp | rs72551350 |
| ensembl | rs72551350 |
| geneview | rs72551350 |
| scholar | rs72551350 |
| rs72551350 | |
| pharmgkb | rs72551350 |
| gwascentral | rs72551350 |
| openSNP | rs72551350 |
| 23andMe | rs72551350 |
| SNPshot | rs72551350 |
| SNPdbe | rs72551350 |
| MSV3d | rs72551350 |
| GWAS Ctlg | rs72551350 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72551350(T;T) |
| Alt | rs72551350(T;T) |
| Reference | Rs72551350(C;C) |
| Significance | Pathogenic |
| Disease | Crigler-Najjar syndrome |
| Variation | info |
| Gene | UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7 |
| CLNDBN | Crigler-Najjar syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.234676567C>T |
| CLNSRC | |
| CLNACC | RCV000378373.1, |
