rs75053309
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is A;C: cystic fibrosis carrier
- Gene
- CFTR
- Location
- Chr 7117,540,309 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;C), (C;C). 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 120 words
This SNP in the CFTR gene is normally (C), located at the second position of codon 360, which encodes a threonine (T). All three missense variants are known: * c.1079C>A, aka T360K: this has been seen as one of double mutation with Q359K (rs76879328), found in 88% of the CF chromosomes from Soviet Georgian Jews * c.1079C>G, aka T360R: reported as a variant in dbSNP, but not seen to date in ExAC/gnomAD; significance is not known * c.1079C>T, aka T360I: rare, but has been observed in Europeans (in ExAC/gnomAD); significance is not known The T360K mutation is considered to lead (at least when homozygous) to a severe form of cystic fibrosis.
A;C
Reported to be found in Soviet Georgian Jews; see discussion on main rs-page.
Source and license
Adapted from rs75053309 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.