rs28647808

A SNP in the ADAMTS13 gene on chromosome 9. Its most notable genotype is C;C: among diabetic patients, somewhat lower risk for complications but also lower response to therapy

Gene
ADAMTS13
Location
Chr 9133,440,409 (GRCh38)
Highest magnitude
1.2Minor
Tested on
23andMe, FamilyTreeDNA
Minor allele frequency
4%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratedamong diabetic patients, somewhat lower risk for complications but also lower response to therapyMinor · 1.2
  2. C;GNot ratedamong diabetic patients, somewhat higher risk for complications but also better response to therapyMinor · 1.2
  3. G;GNot ratedamong diabetic patients, somewhat higher risk for complications but also better response to therapyMinor · 1.2

On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other ADAMTS13 SNPs

All ADAMTS13 SNPs

Notes

From SNPedia

Show notes, about 190 words

rs28647808, also known as Pro618Ala, is a SNP in the ADAMTS13 gene on chromosome 9, encoding a disintegrin and metalloprotease with thrombospondin type 1 repeats, member 13. The more common (C) allele encodes the Pro; the rarer (G) allele encodes the Ala. Serum ADAMTS13 activity was significantly lower in 618Ala carriers than in Pro/Pro homozygotes. A study of 1,163 patients with type-2 diabetes was conducted to determine if this SNP led to higher renal or cardiavascular complications, and whether it played a role in the therapies designed to minimize these complications. Patients were randomized to ACE inhibition therapy or placebo, and then their reno- and/or cardio-complications were measured. The outcome was clear, at least in this one study: type-2 diabetes 618Ala carriers (i.e. rs28647808(G) carriers) left untreated had about a 50% higher risk for renal complications (i.e. progression to microalbuminuria) compared to Pro/Pro homozygotes, but, they also responded twice as well to ACE inhibitor therapy (i.e. in terms of progression to the renal end-point, ~3% vs ~6% for the Pro/Pro patients treated by ACEi).

Source and license

Adapted from rs28647808 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.