rs332
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is TCT;TCT: Homozygous for F508C variant of cystic fibrosis gene; benign
- Gene
- CFTR
- Location
- Chr 7117,559,593 (GRCh38)
- Highest magnitude
- 0.5Typical
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- TCT;TCTMost notableNot ratedHomozygous for F508C variant of cystic fibrosis gene; benign
- TCT;TTTNot ratedHeterozygous for F508C variant of cystic fibrosis gene; benign
- TTT;TTTGoodnormal form
On SNPedia: (TCT;TCT), (TTT;TCT), (TTT;TTT). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
rs332 is *not* the delta F508 mutation that causes cystic fibrosis. That mutation is also known as rs113993960 and i3000001 delta F508 deletes the CTT that is one basepair upstream of the TTT/TCT in rs332. rs332(TTT), i.e. 3 T's, is the normal allele. rs332(TCT) is a variation known as F508C, representing a benign change in amino acid 508 from phenylalanine to cysteine.OMIM Category: interesting
TCT;TCT
This variation, known as F508C, causes a benign change in amino acid 508 of the cystic fibrosis gene protein.
Source and license
Adapted from rs332 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.