PSEN1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | presenilin 1 |
| EntrezGene | 5663 |
| PheGenI | 5663 |
| VariationViewer | 5663 |
| ClinVar | PSEN1 |
| GeneCards | PSEN1 |
| dbSNP | 5663 |
| Diseases | PSEN1 |
| SADR | 5663 |
| HugeNav | 5663 |
| wikipedia | PSEN1 |
| PSEN1 | |
| gopubmed | PSEN1 |
| EVS | PSEN1 |
| HEFalMp | PSEN1 |
| MyGene2 | PSEN1 |
| 23andMe | PSEN1 |
| UniProt | P49768 |
| Ensembl | ENSG00000080815 |
| OMIM | 104311 |
| # SNPs | 79 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i3002721 | 73,685,900 | ||
| i5007546 | |||
| i5007548 | |||
| i5007549 | |||
| i5007550 | |||
| i5047488 | |||
| i5047502 | |||
| i5047522 | |||
| i5047529 | |||
| i5047544 | |||
| i5047571 | |||
| i5047575 | |||
| i5047580 | |||
| rs1057518919 | 0 | 73,171,023 | |
| rs121917807 | 8.8 | 73,198,057 | |
| rs121917808 | 8 | 73,219,192 | |
| rs121917809 | 6 | 73,211,811 | |
| rs165932 | 0 | 73,198,145 | |
| rs165934 | 0 | 73,206,123 | |
| rs17125721 | 0 | 73,206,470 | |
| rs177415 | 0 | 73,211,255 | |
| rs1800844 | 0 | 73,136,992 | |
| rs267606983 | 8.8 | 73,192,744 | |
| rs281875357 | 8.8 | 73,219,185 | |
| rs28930977 | 0 | 73,219,192 | |
| rs3025786 | 1.6 | 73,198,010 | |
| rs362344 | 0 | 73,223,011 | |
| rs533487738 | 0 | 73,136,373 | |
| rs63749805 | 7 | 73,173,577 | |
| rs63749824 | 7 | 73,170,945 | |
| rs63749885 | 9 | 73,186,859 | |
| rs63749891 | 9 | 73,198,094 | |
| rs63749911 | 7 | 73,186,901 | |
| rs63749962 | 7 | 73,173,570 | |
| rs63749967 | 7 | 73,170,953 | |
| rs63750004 | 7 | 73,173,655 | |
| rs63750082 | 8.8 | 73,192,712 | |
| rs63750083 | 8 | 73,219,177 | |
| rs63750218 | 8 | 73,217,171 | |
| rs63750227 | 8.8 | 73,217,221 | |
| rs63750231 | 8 | 73,198,100 | |
| rs63750265 | 8.8 | 73,186,869 | |
| rs63750299 | 7 | 73,186,890 | |
| rs63750301 | 8.8 | 73,198,052 | |
| rs63750306 | 7 | 73,173,663 | |
| rs63750307 | 8 | 73,170,956 | |
| rs63750325 | 7 | 73,171,022 | |
| rs63750391 | 7 | 73,173,665 | |
| rs63750418 | 8.8 | 73,186,877 | |
| rs63750450 | 7 | 73,173,571 | |
| ... further results | |||
PSEN1 encodes Presenilin-1 (PS-1), a component of the Presenilin family, part of gamma secretase, which affects amyloid precursor protein. Certain variants cause early-onset Alzheimer's Disease.
