rs28931568
A SNP in the SERPINA1 gene on chromosome 14. Its most notable genotype is T;T: high risk of emphysema due to Alpha 1-Antitrypsin Deficiency
- Gene
- SERPINA1
- Location
- Chr 1494,382,966 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadhigh risk of emphysema due to Alpha 1-Antitrypsin Deficiency
- C;TBadcarrier for Alpha-1 Antitrypsin Deficiency
- C;CGoodcommon in complete genomics
SNPedia records rs28931568 on the minus strand: (A;A), (A;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 SERPINA1 SNPs
- rs28929474T;TAlpha-1 Antitrypsin DeficiencyVery important
- rs121912713A;CBleeding disorder likelyVery important
- rs267606950-;-Alpha1-anti-trypsin deficient homozygote; emphysema possibleVery important
- rs28931569G;Ghigh risk of emphysemaVery important
- rs61761869A;APossible Alpha-1 Antrypsin deficiency genotypeImportant
- rs11558261C;Tcarrier for Alpha-1 Antitrypsin DeficiencyImportant
- rs28929472A;ANo summary available.Important
- rs28929473A;Tcarrier for Alpha-1 Antitrypsin DeficiencyImportant
Genosets
Genosets combine several genotypes. Twofold checks them in your report.
Notes
From SNPedia
Notes
rs28931568 is a SNP representing an amino acid change in the SERPINA1 gene, which encodes alpha-1-antitrypsin (AAT). Carriers of two rs28931568(A) alleles, i.e. homozygotes, are at high risk for emphysema based on the finding of this variant in an affected African-American family.
C;T
1 copy of a rare Alpha-1 Antitrypsin Deficiency null allele; likely to be unaffected unless also carrying another null variant.
Source and license
Adapted from rs28931568 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.