rs759154440
From SNPedia
| Merged into | rs62514936 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;TC) | 3 | Carrier of a phenylketonuria mutation |
| (TC;TC) | 0 | common in clinvar |
| Make rs759154440(-;-) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 102855177 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs759154440 |
| dbSNP (classic) | rs759154440 |
| ClinGen | rs759154440 |
| ebi | rs759154440 |
| HLI | rs759154440 |
| Exac | rs759154440 |
| Gnomad | rs759154440 |
| Varsome | rs759154440 |
| LitVar | rs759154440 |
| Map | rs759154440 |
| PheGenI | rs759154440 |
| Biobank | rs759154440 |
| 1000 genomes | rs759154440 |
| hgdp | rs759154440 |
| ensembl | rs759154440 |
| geneview | rs759154440 |
| scholar | rs759154440 |
| rs759154440 | |
| pharmgkb | rs759154440 |
| gwascentral | rs759154440 |
| openSNP | rs759154440 |
| 23andMe | rs759154440 |
| SNPshot | rs759154440 |
| SNPdbe | rs759154440 |
| MSV3d | rs759154440 |
| GWAS Ctlg | rs759154440 |
| Status | Merged into rs62514936 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs759154440(TC;TC) |
| Significance | Probable-Pathogenic |
| Disease | not provided Phenylketonuria |
| Variation | info |
| Gene | PAH |
| CLNDBN | not provided Phenylketonuria |
| Reversed | 0 |
| HGVS | NC_000012.11:g.103248955_103248956delTC |
| CLNSRC | |
| CLNACC | RCV000089025.1, RCV000169088.1, |
