PSEN2
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | presenilin 2 |
| EntrezGene | 5664 |
| PheGenI | 5664 |
| VariationViewer | 5664 |
| ClinVar | PSEN2 |
| GeneCards | PSEN2 |
| dbSNP | 5664 |
| Diseases | PSEN2 |
| SADR | 5664 |
| HugeNav | 5664 |
| wikipedia | PSEN2 |
| PSEN2 | |
| gopubmed | PSEN2 |
| EVS | PSEN2 |
| HEFalMp | PSEN2 |
| MyGene2 | PSEN2 |
| 23andMe | PSEN2 |
| UniProt | P49810 |
| Ensembl | ENSG00000143801 |
| OMIM | 600759 |
| # SNPs | 29 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5007545 | |||
| i5047658 | |||
| rs11405 | 0 | 226,881,976 | |
| rs1295645 | 0 | 226,871,336 | |
| rs137852703 | 0 | 226,885,546 | |
| rs150400387 | 5 | 226,883,747 | |
| rs1800680 | 0 | 226,888,283 | |
| rs200670135 | 0 | 226,888,972 | |
| rs200754713 | 7 | 226,888,954 | |
| rs2073489 | 0 | 226,875,970 | |
| rs28936379 | 9 | 226,888,977 | |
| rs28936380 | 9 | 226,885,546 | |
| rs367855127 | 7 | 226,888,974 | |
| rs533813519 | 7 | 226,888,097 | |
| rs574125890 | 7 | 226,888,902 | |
| rs61757781 | 1.5 | 226,888,112 | Mutation in the PSEN2 Gene |
| rs61761208 | 8 | 226,885,602 | |
| rs63749851 | 9 | 226,885,545 | |
| rs63749884 | 8 | 226,888,979 | |
| rs63750048 | 0 | 226,883,817 | |
| rs63750110 | 4 | 226,895,548 | |
| rs63750197 | 6.6 | 226,885,570 | |
| rs63750215 | 9 | 226,885,603 | |
| rs63750666 | 8 | 226,895,521 | |
| rs63750812 | 5 | 226,885,623 | |
| rs6759 | 0 | 226,882,036 | |
| rs755101354 | 0 | 226,885,663 | |
| rs775145486 | 0 | 226,888,116 | |
| rs8383 | 0 | 226,895,849 |
PSEN2 encodes Presenilin-2, a component of gamma-secretase which cleaves amyloid precursor protein. Variants are associated with early-onset familial Alzheimer disease and idiopathic dilated cardiomyopathy.
