rs5030855
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Phenylketonuria |
| (A;G) | 3 | Carrier of a phenylketonuria mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 102843790 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5030855 |
| dbSNP (classic) | rs5030855 |
| ClinGen | rs5030855 |
| ebi | rs5030855 |
| HLI | rs5030855 |
| Exac | rs5030855 |
| Gnomad | rs5030855 |
| Varsome | rs5030855 |
| LitVar | rs5030855 |
| Map | rs5030855 |
| PheGenI | rs5030855 |
| Biobank | rs5030855 |
| 1000 genomes | rs5030855 |
| hgdp | rs5030855 |
| ensembl | rs5030855 |
| geneview | rs5030855 |
| scholar | rs5030855 |
| rs5030855 | |
| pharmgkb | rs5030855 |
| gwascentral | rs5030855 |
| openSNP | rs5030855 |
| 23andMe | rs5030855 |
| SNPshot | rs5030855 |
| SNPdbe | rs5030855 |
| MSV3d | rs5030855 |
| GWAS Ctlg | rs5030855 |
| GMAF | 0.001377 |
| Max Magnitude | 6 |
This PKU mutation is also known as IVS10AS, IVS10nt546 or c.1066-11G>A, and is reported in OMIM as being seen relatively often in Mediterranean countries, South America, and a certain population of Amish in Ohio.
| ClinVar | |
|---|---|
| Risk | Rs5030855(A;A) |
| Alt | Rs5030855(A;A) |
| Reference | Rs5030855(G;G) |
| Significance | Pathogenic |
| Disease | Phenylketonuria not provided |
| Variation | info |
| Gene | PAH |
| CLNDBN | Phenylketonuria not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103237568C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000638.6, RCV000078500.5, |
