rs6647
A SNP in the SERPINA1 gene on chromosome 14. Its most notable genotype is G;G: Normal; two copies of Pi-M1A allele
- Gene
- SERPINA1
- Location
- Chr 1494,381,078 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 24%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableGoodNormal; two copies of Pi-M1A allele
- A;GGoodNormal; one Pi-M1V allele and one Pi-M1A allele
- A;AGoodNormal; two copies of Pi-M1V allele
SNPedia records rs6647 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 13% A;G 27% A;A 60%
- European ancestry (Utah)G;G 7% A;G 32% A;A 61%
- Han Chinese (Beijing)G;G 0% A;G 4% A;A 96%
- Japanese (Tokyo)G;G 0% A;G 2% A;A 98%
- Yoruba (Nigeria)G;G 41% A;G 45% A;A 14%
- African ancestry (Southwest US)G;G 27% A;G 49% A;A 24%
- Chinese (Denver)G;G 0% A;G 6% A;A 95%
- Gujarati IndianG;G 2% A;G 29% A;A 69%
- Luhya (Kenya)G;G 40% A;G 48% A;A 12%
- Mexican ancestry (Los Angeles)G;G 0% A;G 12% A;A 88%
- Maasai (Kenya)G;G 22% A;G 50% A;A 28%
- TuscanG;G 2% A;G 26% A;A 73%
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
- rs61761869A;APossible Alpha-1 Antrypsin deficiency genotypeImportant
- rs11558261C;Tcarrier for Alpha-1 Antitrypsin DeficiencyImportant
- rs28929472A;ANo summary available.Important
Notes
From SNPedia
Notes
rs6647, also known in ClinVar as c.710T>C, p.Val237Ala and V237A, and originally known as Val213, represents the site of the variation in the SERPINA1 gene that distinguishes the two Pi-M1 alleles, both of which are considered to be normal. The rs6647(T) allele encodes the more common (in Caucasians) Pi-M1V (for Val) allele; rs6647(C) encodes the Pi-M1A (for Ala) allele, thought to be the ancestral/original allele in humans but now somewhat less common than Pi-M1V.
G;G
see rs6647 for discussion of this SERPINA1 gene genotype
A;G
see rs6647 for discussion of this SERPINA1 gene genotype
A;A
see rs6647 for discussion of this SERPINA1 gene genotype
Source and license
Adapted from rs6647 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.