rs61761869
A SNP in the SERPINA1 gene on chromosome 14. Its most notable genotype is A;A: Possible Alpha-1 Antrypsin deficiency genotype
- Gene
- SERPINA1
- Location
- Chr 1494,378,529 (GRCh38)
- Highest magnitude
- 3.1Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadPossible Alpha-1 Antrypsin deficiency genotype
- A;GBadLikely carrier of SERPINA1 mutation; slight chance of Alpha-1 Antitrypsin Deficiency?
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (A;G), (G;G). 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
- rs121912713A;CBleeding disorder likelyVery 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
- rs11558261C;Tcarrier for Alpha-1 Antitrypsin DeficiencyImportant
- rs28929472A;ANo summary available.Important
- rs28929473A;Tcarrier for Alpha-1 Antitrypsin DeficiencyImportant
Notes
From SNPedia
Notes
c.1177C>A (p.Pro393Thr) Described as a pathogenic variant by a single lab (HerediLab) in ClinVar; not described elsewhere to our knowledge. If true, this would be considered an SERPINA1 genotype associated with alpha1-antitrypsin deficiency.
A;A
See rs61761869
A;G
Likely to be unaffected in absence of a second SERPINA1 mutation; the (A) allele is described as a pathogenic allele by (only) one submitter to ClinVar; see rs61761869
Source and license
Adapted from rs61761869 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.