rs5498

A SNP in the LOC105372272 gene on chromosome 19. Its most notable genotype is A;A: normal

Gene
LOC105372272
Location
Chr 1910,285,007 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
35%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableNot ratednormalTypical · 0.051% of people
  2. A;GNot rated0.6x decreased risk for diabetic nephropathy in females with type-1 diabetes; 1.9x increased malaria riskTypical · 0.037% of people
  3. G;GNot rated0.6x decreased risk for diabetic nephropathy in females with type-1 diabetes; 1.9x increased malaria riskTypical · 0.013% 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 51% A;G 37% G;G 13%
  • European ancestry (Utah)A;A 38% A;G 46% G;G 16%
  • Han Chinese (Beijing)A;A 57% A;G 38% G;G 4%
  • Japanese (Tokyo)A;A 35% A;G 48% G;G 18%
  • Yoruba (Nigeria)A;A 74% A;G 22% G;G 4%
  • African ancestry (Southwest US)A;A 75% A;G 23% G;G 2%
  • Chinese (Denver)A;A 54% A;G 41% G;G 6%
  • Gujarati IndianA;A 15% A;G 52% G;G 33%
  • Luhya (Kenya)A;A 86% A;G 14% G;G <1%
  • Mexican ancestry (Los Angeles)A;A 16% A;G 54% G;G 30%
  • Maasai (Kenya)A;A 85% A;G 14% G;G 1%
  • TuscanA;A 23% A;G 52% G;G 26%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 190 words

rs5498, also known as E469K or K469E, is a SNP in the ICAM1 gene that has been associated in some studies (and not others) with risk for type-1 diabetes (T1D). Studies involving Swedish and Japanese T1D patients have reported one or the other of the rs5498 alleles to represent increased T1D risk; studies involving British, Finnish, and Danish patients have not seen any association between rs5498 and T1D PMID 11132145, PMID 10902613. In a study of the type-1 diabetes complication known as diabetic nephropathy (DN), 662 (312 female/350 male) T1D patients with DN and 620 (369/251) without DN were studied (all were Swedish Caucasians). The rs5498(G) allele was found to be significantly associated with decreased risk for diabetic nephropathy specifically in female T1D patients, with an odds ratio of 0.692 (CI: 0.5-0.958, p= 0.010). A study of 552 individuals in India found an association between the rs5498(G) allele and increased risk of severe malaria, with an odds ratio 1.91 (p=0.02).7thspace.com

Source and license

Adapted from rs5498 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.