rs2243639
A SNP in the SFTPD gene on chromosome 10. Its most notable genotype is T;T: common in clinvar
- Gene
- SFTPD
- Location
- Chr 1079,941,966 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 26%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (T;T). 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.
- AverageT;T 7%
- European ancestry (Utah)T;T 19%
- Han Chinese (Beijing)T;T 3%
- Japanese (Tokyo)T;T 7%
- Yoruba (Nigeria)T;T 0%
- African ancestry (Southwest US)T;T 2%
- Chinese (Denver)T;T 6%
- Gujarati IndianT;T 8%
- Luhya (Kenya)T;T 0%
- Mexican ancestry (Los Angeles)T;T 14%
- Maasai (Kenya)T;T 0%
- TuscanT;T 18%
Related
Notes
From SNPedia
Notes
Gene-environment interaction effects on the development of immune responses in the 1st year of life. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Lemierre's syndrome and genetic polymorphisms: a case report. Genetic variants and monoallelic expression of surfactant protein-D in inflammatory bowel disease.
Source and license
Adapted from rs2243639 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.