rs35516286
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is T;T: common in clinvar
- Gene
- CFTR
- Location
- Chr 7117,531,068 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (T;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
Known as I148T or Ile148Thr, rs35516286 was initially thought to thought to be a mutation associated with cystic fibrosis. However, as reported succinctly in the CFTR2 database, it is now believed that rs35516286 is only associated with cystic fibrosis CF when another mutation (usually rs121908767, aka 3199del6) is present on the same copy of the CFTR gene AND there is another CF-causing mutation on the other copy of the CFTR gene (i.e. the other chromosome). In other words, while rs35516286 may be co-inherited with a true-CF-causing variant, rs35516286 itself is not CF-causing.
Source and license
Adapted from rs35516286 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.