i4000305
From SNPedia
| Cystic Fibrosis related |
| 23andMe data | I4000305 |
| 23andMe search | I4000305 |
| opensnp | I4000305 |
| Gene (via rs) | CFTR |
| Gene | CFTR |
| Chromosome | 7 |
| Position | 117227860 |
| iGeno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | a treatable form of cystic fibrosis |
| (A;G) | 4 | carrier for cystic fibrosis |
| (G;G) | 0 | normal |
| alias | rs75527207 |
| Rs_StabilizedOrientation | plus |
| RsGeno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | Double homozygote for cystic fibrosis G551D allele |
| (A;G) | 3 | Carrier for cystic fibrosis G551D allele |
| (G;G) | 0 | common in clinvar |
also known as rs75527207
there is a specific medicine to treat this form of cystic fibrosis
http://www.reuters.com/article/2012/01/31/us-fda-vertex-kalydeco-idUSTRE80U1JA20120131
