rs144055758
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 7117,610,625 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A), (A;G). 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
Show notes, about 120 words
aka c.3095A>G, p.Tyr1032Cys or Y1032C In the CFTR2 database, the minor allele is considered to be of varying clinical consequence. In a functional study, it shows 20.6% of wild-type CFTR activity. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population. Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns. Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
A;G
Varying Clinical Consequence; see discussion on main rs-page
Source and license
Adapted from rs144055758 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.