i4000305(A;A)

A treatable form of cystic fibrosis

Magnitude
5.0Very important
Repute
Bad
On SNPedia
i4000305(A;A)
Gene
CFTR

Other genotypes of i4000305

  1. A;GBadcarrier for cystic fibrosisVery important · 4.0
  2. G;GGoodnormalTypical · 0.0

All about i4000305

Notes

From SNPedia

Found in 4% to 5% of cystic fibrosis patients, G551D-CFTR is the second most common genetic mutation after the delta F508-CFTR mutation, which is present in more than 90% of patients. An estimated 70,000 patients worldwide and 30,000 in the U.S. have cystic fibrosis. http://www.reuters.com/article/2012/01/31/us-fda-vertex-kalydeco-idUSTRE80U1JA20120131 http://www.medpagetoday.com/Pulmonology/CysticFibrosis/30936

Source and license

Adapted from i4000305(A;A) on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.