rs762462102
From SNPedia
| Merged into | rs199475565 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;AGA) | 3 | Carrier of a phenylketonuria mutation |
| Make rs762462102(-;-) |
| Make rs762462102(AGA;AGA) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 12 |
| Position | 102912841 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs762462102 |
| dbSNP (classic) | rs762462102 |
| ClinGen | rs762462102 |
| ebi | rs762462102 |
| HLI | rs762462102 |
| Exac | rs762462102 |
| Gnomad | rs762462102 |
| Varsome | rs762462102 |
| LitVar | rs762462102 |
| Map | rs762462102 |
| PheGenI | rs762462102 |
| Biobank | rs762462102 |
| 1000 genomes | rs762462102 |
| hgdp | rs762462102 |
| ensembl | rs762462102 |
| geneview | rs762462102 |
| scholar | rs762462102 |
| rs762462102 | |
| pharmgkb | rs762462102 |
| gwascentral | rs762462102 |
| openSNP | rs762462102 |
| 23andMe | rs762462102 |
| SNPshot | rs762462102 |
| SNPdbe | rs762462102 |
| MSV3d | rs762462102 |
| GWAS Ctlg | rs762462102 |
| Status | Merged into rs199475565 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | rs762462102(AGA;AGA) |
| Significance | Other |
| Disease | Phenylketonuria not provided |
| Variation | info |
| Gene | PAH |
| CLNDBN | Phenylketonuria not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.103306619_103306621delAGA |
| CLNSRC | |
| CLNACC | RCV000169302.2, RCV000186077.2, |
