rs267606950
A SNP in the SERPINA1 gene on chromosome 14. Its most notable genotype is -;-: Alpha1-anti-trypsin deficient homozygote; emphysema possible
- Gene
- SERPINA1
- Location
- Chr 1494,382,686 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Most notableBadAlpha1-anti-trypsin deficient homozygote; emphysema possible
- -;GBadcarrier for Alpha-1 Antitrypsin Deficiency
- G;GGoodcommon/normal
SNPedia records rs267606950 on the minus strand: (-;-), (-;C), (C;C). 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
- 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
c.552delC (p.Tyr184Terfs, Y160X, p.Tyr160Ter); also known as PI null (Granite Falls). OMIM indicates emphysema is associated with homozygosity. Note: a 2018 publication lists this variant as pathogenic for several cancer types.
-;-
see text and links via main rs-page
-;G
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 rs267606950 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.