rs78802634

A SNP in the CFTR gene on chromosome 7. Its most notable genotype is A;G: cystic fibrosis carrier

Gene
CFTR
Location
Chr 7117,611,707 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadcystic fibrosis carrierImportant · 3.0
  2. C;CGoodcommon in complete genomicsTypical · 0.0
  3. G;GGoodcommon in clinvarTypical · 0.0

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

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 120 words

Cystic fibrosis; c.3266G>A, p.Trp1089Ter named i5011848 by 23andMe FTDNA & MyHeritage name: VG07S29406 Electromagnetic measurements of metacarpal and digital blood flow in the pony. Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Prevalence of cystic fibrosis mutations in Israeli Jews. Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.

Source and license

Adapted from rs78802634 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.