CFTR
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
| EntrezGene | 1080 |
| PheGenI | 1080 |
| VariationViewer | 1080 |
| ClinVar | CFTR |
| GeneCards | CFTR |
| dbSNP | 1080 |
| Diseases | CFTR |
| SADR | 1080 |
| HugeNav | 1080 |
| wikipedia | CFTR |
| CFTR | |
| gopubmed | CFTR |
| EVS | CFTR |
| HEFalMp | CFTR |
| MyGene2 | CFTR |
| 23andMe | CFTR |
| UniProt | P13569 |
| Ensembl | ENSG00000001626 |
| OMIM | 602421 |
| # SNPs | 1076 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i3000001 | 117,199,646 | ||
| i3002449 | 117,267,766 | Cystic Fibrosis related | |
| i4000291 | 117,188,849 | ||
| i4000292 | 117,199,644 | Cystic Fibrosis Delta507 Mutation marker | |
| i4000294 | 117,149,177 | Cystic Fibrosis related | |
| i4000295 | 117,171,029 | Cystic Fibrosis related | |
| i4000296 | 117,180,284 | Cystic Fibrosis related | |
| i4000297 | 117,180,324 | Cystic Fibrosis related | |
| i4000299 | 117,199,683 | ||
| i4000300 | 117,227,832 | Cystic Fibrosis related | |
| i4000301 | 117,227,854 | Cystic Fibrosis related | |
| i4000302 | 117,227,855 | Cystic Fibrosis related | |
| i4000305 | 117,227,860 | Cystic Fibrosis related | |
| i4000306 | 117,227,865 | Cystic Fibrosis related | |
| i4000307 | 117,227,887 | Cystic Fibrosis related | |
| i4000308 | 117,267,591 | Cystic Fibrosis related | |
| i4000309 | 117,282,620 | Cystic Fibrosis related | |
| i4000311 | 117,292,931 | Cystic Fibrosis related | |
| i4000313 | 117,149,185 | Cystic Fibrosis | |
| i4000314 | 117,171,169 | Cystic Fibrosis related | |
| i4000315 | 117,174,420 | Cystic Fibrosis related | |
| i4000316 | 117,180,230 | Cystic Fibrosis related | |
| i4000317 | 117,227,792 | ||
| i4000318 | 117,230,494 | Cystic Fibrosis related | |
| i4000319 | 117,232,273 | ||
| i4000320 | 117,242,922 | ||
| i4000321 | 117,246,808 | ||
| i4000322 | 117,267,634 | Cystic Fibrosis related | |
| i4000323 | 117,282,518 | ||
| i4000324 | 117,282,547 | Cystic Fibrosis related | |
| i4000325 | 117,280,015 | Cystic Fibrosis related | |
| i5006047 | 117,199,602 | Cystic Fibrosis related | |
| i5006048 | 117,171,007 | Cystic Fibrosis related | |
| i5006049 | |||
| i5006050 | 117,188,849 | Cystic Fibrosis related | |
| i5006053 | 117,227,853 | Cystic Fibrosis related | |
| i5006054 | Cystic Fibrosis related | ||
| i5006055 | Cystic Fibrosis related | ||
| i5006056 | 117,227,883 | Cystic Fibrosis related | |
| i5006058 | |||
| i5006062 | 117,235,031 | Cystic Fibrosis related | |
| i5006063 | 117,235,030 | Cystic Fibrosis related | |
| i5006070 | Cystic Fibrosis related | ||
| i5006071 | 117,235,044 | Cystic Fibrosis related | |
| i5006072 | 117,227,859 | Cystic Fibrosis related | |
| i5006074 | 117,267,579 | Cystic Fibrosis related | |
| i5006075 | |||
| i5006076 | |||
| i5006080 | 117,199,600 | Cystic Fibrosis related | |
| i5006083 | 117,251,692 | Cystic Fibrosis related | |
| ... further results | |||
Cystic fibrosis transmembrane conductance regulator (CFTR).
Carrier mutations for cystic fibrosis as designated in SNPedia are primarily from ClinVar and from the CFTR2 database (most recent release, 8 August 2016).
