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.
- A;AMost notableNot ratednormal
- A;GNot rated0.6x decreased risk for diabetic nephropathy in females with type-1 diabetes; 1.9x increased malaria risk
- G;GNot rated0.6x decreased risk for diabetic nephropathy in females with type-1 diabetes; 1.9x increased malaria risk
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%
Related
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.