rs113993959
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is T;T: Cystic Fibrosis; homozygote for G542X mutation
- Gene
- CFTR
- Location
- Chr 7117,587,778 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GGoodnormal
- G;TBadcarrier for G542X cystic fibrosis mutation
- T;TMost notableBadCystic Fibrosis; homozygote for G542X mutation
On SNPedia: (G;G), (G;T), (T;T). 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
rs113993959, also known as c.1624G>T, Gly542Ter or G542X, is a SNP in the CFTR cystic fibrosis gene. This mutation is fairly rare, but in Ashkenazi Jews it accounts for ~13% of all cases of cystic fibrosis. See also OMIM 602421.0009. In 23andMe, rs113993959 may be called one of several names: i4000300, i5006109 or i5011314.
Source and license
Adapted from rs113993959 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.