rs74349352
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs74349352(A;A) |
| Make rs74349352(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 45015501 |
| Gene | UROD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74349352 |
| dbSNP (classic) | rs74349352 |
| ClinGen | rs74349352 |
| ebi | rs74349352 |
| HLI | rs74349352 |
| Exac | rs74349352 |
| Gnomad | rs74349352 |
| Varsome | rs74349352 |
| LitVar | rs74349352 |
| Map | rs74349352 |
| PheGenI | rs74349352 |
| Biobank | rs74349352 |
| 1000 genomes | rs74349352 |
| hgdp | rs74349352 |
| ensembl | rs74349352 |
| geneview | rs74349352 |
| scholar | rs74349352 |
| rs74349352 | |
| pharmgkb | rs74349352 |
| gwascentral | rs74349352 |
| openSNP | rs74349352 |
| 23andMe | rs74349352 |
| SNPshot | rs74349352 |
| SNPdbe | rs74349352 |
| MSV3d | rs74349352 |
| GWAS Ctlg | rs74349352 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs74349352(A;A) |
| Alt | rs74349352(A;A) |
| Reference | Rs74349352(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Porphyria cutanea tarda |
| Variation | info |
| Gene | UROD |
| CLNDBN | not specified Porphyria cutanea tarda |
| Reversed | 0 |
| HGVS | NC_000001.10:g.45481173G>A |
| CLNSRC | Illumina |
| CLNACC | RCV000242058.1, RCV000385567.1, |
