rs8330
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs8330(C;C) |
| Make rs8330(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 233772999 |
| Gene | MROH2A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8330 |
| dbSNP (classic) | rs8330 |
| ClinGen | rs8330 |
| ebi | rs8330 |
| HLI | rs8330 |
| Exac | rs8330 |
| Gnomad | rs8330 |
| Varsome | rs8330 |
| LitVar | rs8330 |
| Map | rs8330 |
| PheGenI | rs8330 |
| Biobank | rs8330 |
| 1000 genomes | rs8330 |
| hgdp | rs8330 |
| ensembl | rs8330 |
| geneview | rs8330 |
| scholar | rs8330 |
| rs8330 | |
| pharmgkb | rs8330 |
| gwascentral | rs8330 |
| openSNP | rs8330 |
| 23andMe | rs8330 |
| SNPshot | rs8330 |
| SNPdbe | rs8330 |
| MSV3d | rs8330 |
| GWAS Ctlg | rs8330 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 24856997] [Mutations in UGT1A1 gene in neonates with hyperbilirubinemia of Guangxi Heiyi Zhuang nationality]
| ClinVar | |
|---|---|
| Risk | rs8330(C;C) |
| Alt | rs8330(C;C) |
| Reference | Rs8330(G;G) |
| Significance | Non-pathogenic |
| Disease | Crigler-Najjar syndrome Hyperbilirubinemia transient familial neonatal Gilbert's syndrome |
| Variation | info |
| Gene | UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7 |
| CLNDBN | Crigler-Najjar syndrome Hyperbilirubinemia transient familial neonatal Gilbert's syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.234681645G>C |
| CLNSRC | |
| CLNACC | RCV000303713.1, RCV000358476.1, RCV000406231.1, |
