rs397508137
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is A;G: CF carrier mutation, but of varying clinical consequence
- Gene
- CFTR
- Location
- Chr 7117,540,231 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadCF carrier mutation, but of varying clinical consequence
- G;GGoodcommon in clinvar
- G;TBadcarrier of a cystic fibrosis allele
On SNPedia: (A;G), (G;G), (G;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
aka both c.1001G>T and c.1001G>A; the first is CF-causing, the second is of varying clinical consequence (~27% of wild type CFTR-activity).
A;G
see discussion and links via main rs-page
G;T
Cystic fibrosis mutation carrier; unaffected unless CF mutation present on other copy of CF gene
Source and license
Adapted from rs397508137 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.