rs145449046
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is C;G: cystic fibrosis carrier (most likely)
- Gene
- CFTR
- Location
- Chr 7117,592,541 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;GMost notableBadcystic fibrosis carrier (most likely)
- C;TBadcystic fibrosis carrier
On SNPedia: (C;C), (C;G), (C;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
Cystic fibrosis; c.2374C>T, p.Arg792Ter, as well as c.2374C>G, p.Arg792Gly named i5011543 by 23andMe Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. Two novel missense mutations (R766M and R792G) in exon 13 of the CFTR gene in a patient with congenital bilateral absence of the vas deferens. The phenotypic consequences of CFTR mutations. Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
C;T
Carrier of one allele for Congenital bilateral absence of the vas deferens (in addition to cystic fibrosis) according to ClinVar
Source and license
Adapted from rs145449046 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.