rs75389940
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is A;G: carrier of a cystic fibrosis allele
- Gene
- CFTR
- Location
- Chr 7117,627,753 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;GMost notableBadcarrier of a cystic fibrosis allele
On SNPedia: (A;A), (A;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
Notes
Cystic fibrosis; c.3700A>G, p.Ile1234Val (note former minus strand orientation in dbSNP; later, appears to have been flipped to forward at some point by dbSNP); considered of unknown significance by CFTR2 database, but listed as pathogenic in ClinVar according to two submitters named i5011976, i5006121 and i5053843 by 23andMe? FTDNA & MyHeritage name: VG07S29435
A;G
Cystic fibrosis mutation carrier; unaffected unless CF mutation present on other copy of CF gene
Source and license
Adapted from rs75389940 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.