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i4000305(A;A)

From SNPedia

a treatable form of cystic fibrosis
is agenotype
ofI4000305
mentionedby
Magnitude5
ReputeBad
Geno Mag Summary
(A;A) 5 a treatable form of cystic fibrosis
(A;G) 4 carrier for cystic fibrosis
(G;G) 0 normal

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