C9orf72
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | chromosome 9 open reading frame 72 |
| EntrezGene | 203228 |
| PheGenI | 203228 |
| VariationViewer | 203228 |
| ClinVar | C9orf72 |
| GeneCards | C9orf72 |
| dbSNP | 203228 |
| Diseases | C9orf72 |
| SADR | 203228 |
| HugeNav | 203228 |
| wikipedia | C9orf72 |
| C9orf72 | |
| gopubmed | C9orf72 |
| EVS | C9orf72 |
| HEFalMp | C9orf72 |
| MyGene2 | C9orf72 |
| 23andMe | C9orf72 |
| UniProt | Q96LT7 |
| Ensembl | ENSG00000147894 |
| OMIM | 614260 |
| # SNPs | 2 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs71492753 | 0 | 27,573,540 | |
| rs774359 | 0 | 27,561,051 |
An abnormal expansion of a specific C9orf72 hexanucleotide repeat unit (GGGGCC) is the most common genetic variant associated with both familial and sporadic ALS. [PMID 21944779],[PMID 21944778]
This repeat is not represented by a SNP, and, is not currently represented in SNPedia.
