rs77834169(C;T)
From SNPedia
| carrier of a cystic fibrosis allele |
| Is a | genotype |
| of | rs77834169 |
| Gene | CFTR |
| Chromosome | 7 |
| Position | 117,530,974 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of a cystic fibrosis allele |
Cystic fibrosis mutation carrier; unaffected unless CF mutation present on other copy of CF gene
This cystic fibrosis variant, known as R117S, is reported as likely to be a pathogenic change in ClinVar.
