rs121908779
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is A;CTCAAAACT: cystic fibrosis carrier
- Gene
- CFTR
- Location
- Chr 7117,592,090 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CTCAAAACTMost notableBadcystic fibrosis carrier
- CTCAAAACT;CTCAAAACTGoodcommon in clinvar
On SNPedia: (A;CTCAAAACT), (CTCAAAACT;CTCAAAACT). 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
rs121908779, probably best known as 2055del9>A, is a SNP in the cystic fibrosis CFTR gene. It has been reported as pathogenic in ClinVar by one submitter (Invitae), however that company's own database does not list it, and 23andMe does not test for it even under one of their 'secret' i-names. If anyone has information definitively indicating something about the pathogenicity of the rare allele of this SNP, which deletes 9 nucleotides and replaces them with a single 'A', please let us know.
Source and license
Adapted from rs121908779 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.