rs34035085
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs34035085(A;A) |
| Make rs34035085(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 24500256 |
| Gene | UPB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34035085 |
| dbSNP (classic) | rs34035085 |
| ClinGen | rs34035085 |
| ebi | rs34035085 |
| HLI | rs34035085 |
| Exac | rs34035085 |
| Gnomad | rs34035085 |
| Varsome | rs34035085 |
| LitVar | rs34035085 |
| Map | rs34035085 |
| PheGenI | rs34035085 |
| Biobank | rs34035085 |
| 1000 genomes | rs34035085 |
| hgdp | rs34035085 |
| ensembl | rs34035085 |
| geneview | rs34035085 |
| scholar | rs34035085 |
| rs34035085 | |
| pharmgkb | rs34035085 |
| gwascentral | rs34035085 |
| openSNP | rs34035085 |
| 23andMe | rs34035085 |
| SNPshot | rs34035085 |
| SNPdbe | rs34035085 |
| MSV3d | rs34035085 |
| GWAS Ctlg | rs34035085 |
| GMAF | 0.002755 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34035085(A;A) rs34035085(T;T) |
| Alt | rs34035085(A;A) rs34035085(T;T) |
| Reference | Rs34035085(C;C) |
| Significance | Pathogenic |
| Disease | Deficiency of beta-ureidopropionase not provided not specified |
| Variation | info |
| Gene | UPB1 |
| CLNDBN | Deficiency of beta-ureidopropionase not provided not specified |
| Reversed | 0 |
| HGVS | NC_000022.10:g.24896224C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004365.3, RCV000086541.1, RCV000455167.1, |
