i4000305
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is A;A: a treatable form of cystic fibrosis
- Gene
- CFTR
- Location
- Chr 7117,227,860 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other CFTR SNPs
- i4000292D;Dcystic fibrosisVery important
- rs74551128A;ACystic fibrosisVery important
- rs113993960-;-Cystic Fibrosis; homozygote for delta F-508 mutationVery important
- rs199826652-;-Cystic Fibrosis; homozygote for delta F-508 mutationVery important
- i4000309A;ACystic FibrosisVery important
- i4000294A;ACystic FibrosisVery important
- i4000296T;TCystic FibrosisVery important
- i4000297A;ACystic FibrosisVery important
Notes
From SNPedia
Show notes, about 120 words
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
A;A
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
A;G
there is a specific medicine to treat this form http://www.reuters.com/article/2012/01/31/us-fda-vertex-kalydeco-idUSTRE80U1JA20120131
Source and license
Adapted from i4000305 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.