PAH
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | phenylalanine hydroxylase |
| EntrezGene | 5053 |
| PheGenI | 5053 |
| VariationViewer | 5053 |
| ClinVar | PAH |
| GeneCards | PAH |
| dbSNP | 5053 |
| Diseases | PAH |
| SADR | 5053 |
| HugeNav | 5053 |
| wikipedia | PAH |
| PAH | |
| gopubmed | PAH |
| EVS | PAH |
| HEFalMp | PAH |
| MyGene2 | PAH |
| 23andMe | PAH |
| UniProt | P00439 |
| Ensembl | ENSG00000171759 |
| OMIM | 612349 |
| # SNPs | 374 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i3003397 | 103,260,410 | ||
| i3003398 | 103,246,708 | ||
| i3003399 | 103,246,681 | ||
| i3003400 | 103,246,654 | ||
| i3003401 | 103,246,593 | ||
| i3003403 | 103,237,454 | ||
| i3003404 | 103,234,270 | ||
| i3003405 | 103,234,252 | ||
| i4000467 | 103,246,621 | ||
| i4000470 | 103,306,620 | ||
| i4000472 | 103,288,671 | ||
| i4000473 | 103,288,534 | ||
| i4000474 | 103,246,660 | ||
| i4000475 | 103,245,481 | ||
| i4000476 | 103,238,137 | ||
| i4000477 | 103,246,618 | ||
| i4000478 | 103,246,597 | ||
| i4000479 | 103,237,555 | ||
| i4000481 | 103,246,707 | ||
| i6050573 | |||
| rs1037293795 | 0 | 102,843,698 | |
| rs1042503 | 1 | 102,852,922 | |
| rs1057516377 | 0 | 102,840,416 | |
| rs1057516389 | 0 | 102,894,758 | |
| rs1057516604 | 0 | 102,894,732 | |
| rs1057516699 | 0 | 102,843,698 | |
| rs1057516914 | 0 | 102,852,912 | |
| rs1057517009 | 0 | 102,852,867 | |
| rs1057520732 | 0 | 102,851,698 | |
| rs10860936 | 0 | 102,889,174 | |
| rs11111419 | 0 | 102,891,265 | |
| rs118203921 | 3 | 102,852,881 | |
| rs118203923 | 3 | 102,852,926 | |
| rs118203925 | 5.9 | 102,912,819 | |
| rs138809906 | 3 | 102,855,321 | |
| rs140175796 | 3 | 102,877,469 | |
| rs140243918 | 3 | 102,844,399 | |
| rs140945592 | 3 | 102,894,918 | |
| rs149595475 | 3 | 102,843,684 | |
| rs1498694 | 0 | 102,864,098 | |
| rs1522305 | 0 | 102,886,978 | |
| rs1718301 | 0 | 102,877,415 | |
| rs1722387 | 0 | 102,847,292 | |
| rs1799970 | 3 | 102,840,398 | |
| rs1801147 | 3 | 102,855,233 | |
| rs1801152 | 3 | 102,840,473 | |
| rs199475565 | 3 | 102,912,842 | |
| rs199475566 | 3 | 102,912,794 | |
| rs199475570 | 0 | 102,894,735 | |
| rs199475575 | 3 | 102,855,316 | |
| ... further results | |||
Mutations in the phenylalanine hydroxylase (PAH) gene which result in lower activities of the enzyme will cause the metabolic disease phenylketonuria.
SNPs in this gene include:
- rs62514891 (Met1Val)
- rs62514893 (Met1Ile)
- rs5030841 (Leu48Ser)
- rs62516151 (Ser87Arg)
- rs5030843 (Arg158Gln)
- rs62514927 (Tyr204Cys)
- rs62514934 (Glu221Gly)
- rs62508588 (Arg243Gln)
- rs62514942 (Pro244Leu)
- rs5030847 (Arg252Trp)
- rs62642930 (Leu255Ser)
- rs28934900 (Ala259Val)
- rs5030849 (Arg261Gln)
- rs62514953 (Ser273Phe)
- rs28934276 (Tyr277Asp)
- rs5030851 (Pro281Leu)
- rs62642933 (Phe299Cys)
- rs62642934 (Ile306Val)
- rs62642936 (Leu311Pro)
- rs62514958 (Ala322Gly)
- rs62516060 (Leu333Phe)
- rs62508646 (Ser349Pro)
- rs62642937 (Thr380Met)
- rs62516101 (Val388Met)
- rs5030856 (Glu390Gly)
- rs5030858 (Arg408Trp), supercedes rs28934898
- rs5030859 (Arg408Gln)
- rs28934899 (Arg413Pro)
- rs5030860 (Tyr414Cys)
