rs193922504
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is C;T: cystic fibrosis carrier (most likely)
- Gene
- CFTR
- Location
- Chr 7117,587,827 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;T), (T;T). 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 140 words
The CFTR database says this SNP is of unknown significance; ClinVar, citing several sources, indicates it is "likely pathogenic". named i5011342 by 23andMe Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Study of 12 mutations in Turkish cystic fibrosis patients. Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A). Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.
Source and license
Adapted from rs193922504 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.