rs121912713
A SNP in the SERPINA1 gene on chromosome 14. Its most notable genotype is A;C: Bleeding disorder likely
- Gene
- SERPINA1
- Location
- Chr 1494,378,561 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs121912713 on the minus strand: (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other SERPINA1 SNPs
- rs28929474T;TAlpha-1 Antitrypsin DeficiencyVery important
- rs267606950-;-Alpha1-anti-trypsin deficient homozygote; emphysema possibleVery important
- rs28931568T;Thigh risk of emphysema due to Alpha 1-Antitrypsin DeficiencyVery 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
Notes
From SNPedia
Notes
rs121912713, better known as Met358Arg or Pi-Pittsburgh, represents a mutation in the SERPINA1 gene on chromosome 14. The rs121912713(G) allele represents a dominant mutation occurring at the active site of the alpha-1 antitrypsin (AAT) protein, in which AAT becomes a potent inhibitor of thrombin and factor XI (rather than of elastase), resulting in a bleeding disorder. For more details, see OMIM 107400.0026.
A;C
Known as anti-thrombin Pittsburgh, one copy of a rs121912713(G) allele leads to this bleeding disorder. See more details at rs121912713.
Source and license
Adapted from rs121912713 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.