rs193922501
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 7117,480,108 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (C;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
aka c.14C>T, p.Pro5Leu and P5L In the CFTR2 database, the minor allele is considered to be of varying clinical consequence. In a functional study, it shows 22.4% of wild-type CFTR activity. Heterogeneity of erythrocyte pyruvate kinase deficiency and related metabolic disorders in patients with hematological diseases. Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF. A 10-year large-scale cystic fibrosis carrier screening in the Italian population. Biochemical basis of the interaction between cystic fibrosis transmembrane conductance regulator and immunoglobulin-like repeats of filamin.
C;T
Varying Clinical Consequence; see discussion on main rs-page
Source and license
Adapted from rs193922501 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.