rs3755319
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 1 | most likely a benign polymorphism |
| (G;T) | 1 | most likely a benign polymorphism |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 233758936 |
| Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3755319 |
| dbSNP (classic) | rs3755319 |
| ClinGen | rs3755319 |
| ebi | rs3755319 |
| HLI | rs3755319 |
| Exac | rs3755319 |
| Gnomad | rs3755319 |
| Varsome | rs3755319 |
| LitVar | rs3755319 |
| Map | rs3755319 |
| PheGenI | rs3755319 |
| Biobank | rs3755319 |
| 1000 genomes | rs3755319 |
| hgdp | rs3755319 |
| ensembl | rs3755319 |
| geneview | rs3755319 |
| scholar | rs3755319 |
| rs3755319 | |
| pharmgkb | rs3755319 |
| gwascentral | rs3755319 |
| openSNP | rs3755319 |
| 23andMe | rs3755319 |
| SNPshot | rs3755319 |
| SNPdbe | rs3755319 |
| MSV3d | rs3755319 |
| GWAS Ctlg | rs3755319 |
| Max Magnitude | 1 |
aka c.-1352A= (and probably also c.-1353A=)
The "A" variant (T in dbSNP orientation) has been observed in a few Japanese newborns with hyperbilirubinemia, but the association is hardly causative, and even the authors conclude the pathogenicity is "uncertain".[PMID 11061796]
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs3755319(G;G) |
| Alt | Rs3755319(G;G) |
| Reference | Rs3755319(T;T) |
| Significance | Pathogenic |
| Disease | Lucey-Driscoll syndrome |
| Variation | info |
| Gene | UGT1A5 UGT1A3 UGT1A9 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7 |
| CLNDBN | Lucey-Driscoll syndrome |
| Reversed | 1 |
| HGVS | NC_000002.11:g.234667582A\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013075.17, |
