rs121908759
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is A;G: cystic fibrosis carrier (most likely)
- Gene
- CFTR
- Location
- Chr 7117,592,032 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadcystic fibrosis carrier (most likely)
- G;GGoodcommon in clinvar
On SNPedia: (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
Notes
rs121908759, also known as c.1865G>A, p.Gly622Asp and G622D, represents a pathogenic mutation in the CFTR gene, associated with cystic fibrosis if inherited recessively, according to ClinVar. In the CFTR2 database, the minor allele is considered to be of varying clinical consequence. In a functional study, it shows 18.2% of wild-type CFTR activity.
A;G
Varying Clinical Consequence; see discussion on main rs-page
Source and license
Adapted from rs121908759 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.