rs1048990
A SNP in the PSMA6 gene on chromosome 14. Its most notable genotype is C;C: > 1.48x risk
- Gene
- PSMA6
- Location
- Chr 1435,292,469 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 20%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (C;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 4 HapMap populations.
- AverageC;C 62% C;G 31% G;G 8%
- European ancestry (Utah)C;C 79% C;G 20% G;G 2%
- Han Chinese (Beijing)C;C 38% C;G 49% G;G 13%
- Japanese (Tokyo)C;C 34% C;G 50% G;G 16%
- Yoruba (Nigeria)C;C 97% C;G 3% G;G 0%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 120 words
rs1048990, also known as the exon-1 -8C/G SNP in the PSMA6 gene, has been reported in a large study of Japanese patients to be associated with increased risk for myocardial infarction (heart disease). The risk allele (oriented to the dbSNP entry) is (G). The odds ratio (based on an additive model) is 1.48 (CI 1.23-1.77, p = 1.2 x 10e-5). given the rarity of this variant in Caucasians, the attributable risk of rs1048990 for MI is unlikely to be great in western populations Various ways of calculating the association between rs1048990 and myocardial infarction all led to odds ratios of around 1.2 - 1.5 in a case-control association study on a cohort of 1,884 MI patients and 2,643 unrelated controls from the Chinese population.
Source and license
Adapted from rs1048990 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.