rs1130866
A SNP in the SFTPB gene on chromosome 2. Its most notable genotype is G;G: normal
- Gene
- SFTPB
- Location
- Chr 285,666,618 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 49%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs1130866 on the minus strand: (C;C), (C;T), (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.
- AverageG;G 25% A;G 40% A;A 35%
- European ancestry (Utah)G;G 20% A;G 48% A;A 33%
- Han Chinese (Beijing)G;G 50% A;G 42% A;A 9%
- Japanese (Tokyo)G;G 54% A;G 40% A;A 6%
- Yoruba (Nigeria)G;G 5% A;G 25% A;A 70%
- African ancestry (Southwest US)G;G 5% A;G 39% A;A 56%
- Chinese (Denver)G;G 52% A;G 39% A;A 8%
- Gujarati IndianG;G 36% A;G 45% A;A 20%
- Luhya (Kenya)G;G 3% A;G 25% A;A 73%
- Mexican ancestry (Los Angeles)G;G 28% A;G 53% A;A 19%
- Maasai (Kenya)G;G 4% A;G 33% A;A 64%
- TuscanG;G 20% A;G 49% A;A 31%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 170 words
rs1130866 is a SNP altering an amino acid at position 131 of the pulmonary-associated protein B surfactant SFTPB gene. On it's own, it does not affect the odds of acquiring systemic sclerosis. However, in a study of 127 Japanese patients who already had systemic sclerosis, rs1130866(T;T) homozygotes were found to be at reduced risk for interstitial lung disease. The genetics of chronic obstructive pulmonary disease. Surfactant protein B polymorphisms are associated with severe respiratory syncytial virus infection, but not with asthma. No association between coding polymorphism within Exon 4 of the human surfactant protein B gene and pulmonary function in healthy men. Polymorphic variation in surfactant protein B is associated with COPD exacerbations. Developmental and genetic regulation of human surfactant protein B in vivo. Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation. Surfactant protein B polymorphisms, pulmonary function and COPD in 10,231 individuals.
Source and license
Adapted from rs1130866 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.