rs74551128
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is A;A: Cystic fibrosis
- Gene
- CFTR
- Location
- Chr 7117,548,795 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;TBadCystic fibrosis allele (carrier)
- C;CGoodcommon in clinvar
- A;CBadcarrier of a cystic fibrosis allele
- A;AMost notableBadCystic fibrosis
SNPedia records rs74551128 on the minus strand: (A;C), (G;G), (G;T), (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
- 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
- i4000299T;TCystic FibrosisVery important
Notes
From SNPedia
Notes
rs74551128, also known as c.1364C>A, A455E or p.Ala455Glu, is a cystic fibrosis mutation. Note that this SNP is on the minus (reverse) strand in dbSNP and in SNPedia. An additional variant for this SNP, c.1364C>T (p.Ala455Val or A445V) is considered a variant of uncertain significance in ClinVar. A455E is named i4000291, and previously, i5006050, and i5011205, by 23andMe
G;T
Unaffected if other CF allele is normal; see discussion.
A;C
Cystic fibrosis mutation carrier; unaffected unless CF mutation present on other copy of CF gene
A;A
see discussion via main rs-page
Source and license
Adapted from rs74551128 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.