CTSD
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | cathepsin D |
| Other names | CLN10 |
| EntrezGene | 1509 |
| PheGenI | 1509 |
| VariationViewer | 1509 |
| ClinVar | CTSD |
| GeneCards | CTSD |
| dbSNP | 1509 |
| Diseases | CTSD |
| SADR | 1509 |
| HugeNav | 1509 |
| wikipedia | CTSD |
| CTSD | |
| gopubmed | CTSD |
| EVS | CTSD |
| HEFalMp | CTSD |
| MyGene2 | CTSD |
| 23andMe | CTSD |
| UniProt | P07339 |
| Ensembl | ENSG00000117984 |
| OMIM | 116840 |
| # SNPs | 12 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057519591 | 0 | 1,757,340 | |
| rs121912789 | 0 | 1,757,343 | |
| rs121912790 | 0 | 1,753,593 | |
| rs17571 | 2.1 | 1,761,364 | |
| rs587779409 | 0 | 1,758,970 | |
| rs730882208 | 0 | 1,753,572 | |
| rs763407972 | 0 | 1,754,982 | |
| rs786205105 | 0 | 1,754,968 | |
| rs796052400 | 0 | 1,759,606 | |
| rs796052407 | 0 | 1,759,569 | |
| rs797045137 | 0 | 1,758,994 | |
| rs797045138 | 0 | 1,753,546 |
CTSD encodes Cathepsin D, a lysosomal proteinase.
Mutations, rs121912789 and rs121912790, cause Neuronal ceroid lipofuscinosis type 10.
Rs17571 affects Alzheimer's Disease risk.
