rs113993958
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is C;C: Cystic Fibrosis (D110H); milder form
- Gene
- CFTR
- Location
- Chr 7117,530,953 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadCystic Fibrosis (D110H); milder form
- C;GBadcarrier for milder form of cystic fibrosis
- G;GGoodnormal
On SNPedia: (C;C), (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
rs113993958, also known as c.328G>C, is a SNP in the CFTR gene potentially leading to a mild form of cystic fibrosis known as Asp110His or D110H (OMIM 602041.0004). The common form is rs113993958(G), whereas the form leading (when present in two copies) to cystic fibrosis is rs113993958(C). named i5006048 by 23andMe, although their SNPs i5010823, i5010825 and i5010826 are also at the same nucleotide position
Source and license
Adapted from rs113993958 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.