rs113993960
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is -;-: Cystic Fibrosis; homozygote for delta F-508 mutation
- Gene
- CFTR
- Location
- Chr 7117,559,592 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Most notableBadCystic Fibrosis; homozygote for delta F-508 mutation
- -;CTTBadcarrier of a cystic fibrosis allele
- CTT;CTTGoodnormal
On SNPedia: (-;-), (-;CTT), (CTT;CTT). 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
- 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
- i4000299T;TCystic FibrosisVery important
Notes
From SNPedia
Show notes, about 130 words
One of the best-known genetic mutations, rs113993960 is also called delta508 or delta F508. It results in the loss of a phenylalanine (F) residue at amino acid position 508 of the cystic fibrosis CFTR gene. As first reported in 1989, about 70% of all cystic fibrosis patients carry this mutation. Cystic fibrosis is inherited in a recessive manner, so homozygotes for rs113993960(-;-), and less commonly, compound heterozygotes carrying one rs113993960(-) allele in addition to one other nonfunctional CFTR variant, are prone to developing cystic fibrosis. See also i3000001 and i5011261 (the designations used by 23andMe for this SNP).
-;CTT
Cystic fibrosis mutation carrier; unaffected unless CF mutation present on other copy of CF gene, however, some effects may be possible (such as increased asthma risk)
Source and license
Adapted from rs113993960 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.