rs199826652

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 7117,559,591 (GRCh38)
Highest magnitude
8.0Very important
Tested on
Not on consumer chips
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Most notableBadCystic Fibrosis; homozygote for delta F-508 mutationVery important · 8.0
  2. -;TCTBadcarrier for the most common cystic fibrosis mutationImportant · 3.5
  3. TCT;TCTNot ratedcommon/normalTypical · 0.0

On SNPedia: (-;-), (-;TCT), (TCT;TCT). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other CFTR SNPs

All CFTR SNPs

Notes

From SNPedia

Notes

rs199826652 represents the same 3 basepair deletion of the amino acid Phe at position 508 of the CFTR protein, which is commonly known as delta508, as rs113993960. This SNP therefore also represents the CFTR mutation representing ~70% of all cystic fibrosis cases. Both SNPs exist in dbSNP. In SNPedia, the main annotation is at rs113993960, since it is the name more commonly reported in results from microarray platforms. rs199826652 is more likely to be reported in sequencing data, though, due to the left justification of indels as specified in the VCF 4.1 (sequence) file format specification released in 2011.

Source and license

Adapted from rs199826652 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.