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i4000305

From SNPedia

Cystic Fibrosis related
23andMe dataI4000305
23andMe searchI4000305
opensnpI4000305
Gene (via rs)CFTR
GeneCFTR
Chromosome7
Position117227860
iGeno Mag Summary
(A;A) 5 a treatable form of cystic fibrosis
(A;G) 4 carrier for cystic fibrosis
(G;G) 0 normal

aliasrs75527207
Rs_StabilizedOrientationplus
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