rs397508263
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is A;G: carrier of a cystic fibrosis allele
- Gene
- CFTR
- Location
- Chr 7117,587,834 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadcarrier of a cystic fibrosis allele
- C;GBadcystic fibrosis carrier (?)
- G;GGoodcommon in clinvar
On SNPedia: (A;G), (C;G), (G;G). 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
A;G
Cystic fibrosis mutation carrier; unaffected unless CF mutation present on other copy of CF gene
C;G
The (C) allele for this SNP is considered "CF-causing" in the CFTR2 database, however, it is not listed as pathogenic in ClinVar, and the numbering across databases is ambiguous, so overall the consequence of this genotype is currently unclear.
Source and license
Adapted from rs397508263 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.