rs2273697

A SNP in the ABCC2 gene on chromosome 10. Its most notable genotype is A;A: Adverse reaction more likely to carbamazepine in epileptic patients

Gene
ABCC2
Location
Chr 1099,804,058 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
17%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadAdverse reaction more likely to carbamazepine in epileptic patientsMinor · 1.05% of people
  2. A;GBadAdverse reaction more likely to carbamazepine in epileptic patientsMinor · 1.027% of people
  3. G;GGoodnormal/commonTypical · 0.069% of people

On SNPedia: (A;A), (A;G), (G;G). 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.

  • AverageA;A 5% A;G 27% G;G 69%
  • European ancestry (Utah)A;A 5% A;G 38% G;G 57%
  • Han Chinese (Beijing)A;A 2% A;G 17% G;G 81%
  • Japanese (Tokyo)A;A <1% A;G 23% G;G 76%
  • Yoruba (Nigeria)A;A 4% A;G 36% G;G 60%
  • African ancestry (Southwest US)A;A 4% A;G 19% G;G 77%
  • Chinese (Denver)A;A 2% A;G 18% G;G 80%
  • Gujarati IndianA;A 12% A;G 35% G;G 54%
  • Luhya (Kenya)A;A 3% A;G 34% G;G 64%
  • Mexican ancestry (Los Angeles)A;A 2% A;G 21% G;G 78%
  • Maasai (Kenya)A;A 8% A;G 30% G;G 63%
  • TuscanA;A 8% A;G 26% G;G 67%

Conditions, medicines and genes

Other ABCC2 SNPs

All ABCC2 SNPs

Notes

From SNPedia

Notes

rs2273697, also known as c1249G>A or p.V471I, is a nonsynonymous polymorphism in the ABCC2 gene. From an initial case-control study of 146 patients with epilepsy, followed by replication (p=0.001) in another 279 patients, the rs2273697(A) allele was associated with neurological adverse drug reactions from taking carbamazepine. Functional studies showed that this SNP selectively reduced carbamazepine transport across the cell membrane.

Source and license

Adapted from rs2273697 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.