rs1048990
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | > 1.48x risk | |
| (C;G) | 1.48x risk | |
| (G;G) | common |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 35292469 |
| Gene | PSMA6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1048990 |
| dbSNP (classic) | rs1048990 |
| ClinGen | rs1048990 |
| ebi | rs1048990 |
| HLI | rs1048990 |
| Exac | rs1048990 |
| Gnomad | rs1048990 |
| Varsome | rs1048990 |
| LitVar | rs1048990 |
| Map | rs1048990 |
| PheGenI | rs1048990 |
| Biobank | rs1048990 |
| 1000 genomes | rs1048990 |
| hgdp | rs1048990 |
| ensembl | rs1048990 |
| geneview | rs1048990 |
| scholar | rs1048990 |
| rs1048990 | |
| pharmgkb | rs1048990 |
| gwascentral | rs1048990 |
| openSNP | rs1048990 |
| 23andMe | rs1048990 |
| SNPshot | rs1048990 |
| SNPdbe | rs1048990 |
| MSV3d | rs1048990 |
| GWAS Ctlg | rs1048990 |
| GMAF | 0.1951 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
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). [PMID 16845397]
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). [PMID 16845397]
[PMID 18231128] given the rarity of this variant in Caucasians, the attributable risk of rs1048990 for MI is unlikely to be great in western populations
[PMID 19272601] 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.
[PMID 19182073] Genetic variation in the lymphotoxin-alpha pathway and the risk of ischemic stroke in European populations.
[PMID 19624571] Haplotypes Encompassing the KIAA0391 and PSMA6 Gene Cluster Confer a Genetic Link for Myocardial Infarction and Coronary Artery Disease
[PMID 22310064] Polymorphisms of LTA, LGALS2, and PSMA6 genes and coronary atherosclerosis: a pathological study of 1503 consecutive autopsy cases
[PMID 17767904
] Genetic and genomic insights into the molecular basis of atherosclerosis.
[PMID 19503741] Coding variant Met72Thr in the PEDF gene and risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.
[PMID 19753309] SOD2 gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.
[PMID 20157514] Positive association of common variants in CD36 with neovascular age-related macular degeneration.
[PMID 23111455] Quantitative assessment of the influence of PSMA6 variant (rs1048990) on coronary artery disease risk
[PMID 24455213] Association of obesity with proteasomal gene polymorphisms in children
[PMID 22882272] Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke.
[PMID 24875235] Juvenile Idiopathic Arthritis Subtype- and Sex-specific Associations with Genetic Variants in the PSMA6/PSMC6/PSMA3 Gene Cluster
| ClinVar | |
|---|---|
| Risk | Rs1048990(G;G) rs1048990(T;T) |
| Alt | Rs1048990(G;G) rs1048990(T;T) |
| Reference | Rs1048990(C;C) |
| Significance | Other |
| Disease | Myocardial infarction |
| Variation | info |
| Gene | PSMA6 |
| CLNDBN | Myocardial infarction |
| Reversed | 0 |
| HGVS | NC_000014.8:g.35761675C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007198.2, |
[PMID 26661414] Genetic variations in the PSMA3, PSMA6 and PSMC6 genes are associated with type 1 diabetes in Latvians and with expression level of number of UPS-related and T1DM-susceptible genes in HapMap individuals.
