rs213950
A SNP in the CFTR gene on chromosome 7. Its most notable genotype is A;A: very slight (1.1x) increase in type-1 diabetes risk
- Gene
- CFTR
- Location
- Chr 7117,559,479 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 46%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableNot ratedvery slight (1.1x) increase in type-1 diabetes risk
- A;GNot ratedvery slight (1.1x) increase in type-1 diabetes risk
- G;GGoodnormal
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageA;A 42% A;G 36% G;G 22%
- European ancestry (Utah)A;A 28% A;G 41% G;G 31%
- Han Chinese (Beijing)A;A 15% A;G 50% G;G 36%
- Japanese (Tokyo)A;A 8% A;G 49% G;G 43%
- Yoruba (Nigeria)A;A 97% A;G 3% G;G 0%
- African ancestry (Southwest US)A;A 63% A;G 37% G;G 0%
- Chinese (Denver)A;A 19% A;G 52% G;G 28%
- Gujarati IndianA;A 24% A;G 45% G;G 32%
- Luhya (Kenya)A;A 85% A;G 16% G;G 0%
- Mexican ancestry (Los Angeles)A;A 31% A;G 45% G;G 24%
- Maasai (Kenya)A;A 80% A;G 18% G;G 3%
- TuscanA;A 12% A;G 46% G;G 42%
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
rs213950, a SNP in the cystic fibrosis CFTR gene (but not one that is linked to cystic fibrosis), has been reported in a large study to be associated with type-1 diabetes. In an expanded follow-up study of >6,000 controls and 6,000 patients, the heterozygote odds ratio for this SNP was recalculated to be 1.09 (CI 1.04–1.15).
Source and license
Adapted from rs213950 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.