Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE The AA genotype of the aging-related single-nucleotide polymorphism (SNP) rs2075650 in TOMM40 has been associated with longevity, while the AG and GG genotypes are associated with an increased risk of Alzheimer's disease. 31318836 2020
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation GWASCAT Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. 30636644 2019
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE The SNPs rs2075650 and rs4420638 were linked to the most replications within a single reclassified phenotype or very similar reclassified phenotypes; both were associated with Alzheimer's disease (AD). 29942042 2019
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation GWASCAT Hidden heterogeneity in Alzheimer's disease: Insights from genetic association studies and other analyses. 29107063 2018
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE Minor variants: rs10524523-L, rs4420638-G, rs2075650-G were significantly overrepresented in AD. 30443289 2018
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE However, Kaplan-Meier survival analyses suggest that AD patients with TOMM40 allele rs2075650-G have an average age of disease onset of 6 years earlier compared with carriers of the A allele. 27023435 2017
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE Collectively, our analysis shows TOMM40 rs2075650 polymorphism is associated with AD susceptibility in Asian, Caucasian, and mixed populations. 27328316 2016
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE Similarly, our evidence suggested that allele A of TOMM40 rs2075650 polymorphism was a risk factor for AD (OR=2.87, 95% CI: 2.46-3.34, P value <0.001). 26795201 2016
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE Both methods' results showed two identical significant SNPs associated with the A β-42 levels in CSF (rs2075650 at intron region TOMM40 with p-value ≥ 1 × 10-16 and rs439401 in the intergenic region of LOC100129500 and APOC1 with p-value ≥ 1 × 10-9) and highlighted APOC1 and TOMM40, which are well-known genes previously associated with AD. 26576771 2016
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE We conclude that rs2075650 in TOMM40 gene may increase the risk of Alzheimer disease. 26572157 2016
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation GWASCAT Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease. 26993346 2016
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE In single-SNP based tests, AD risk allele of APOE (rs2075650) was associated with smaller HV (p = 0.0054) and CD33 (rs3865444) with smaller intracranial volume (p = 0.0058). 25670335 2015
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
G 0.900 GeneticVariation GWASCAT Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. 24755620 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE Our prevalent case study comparing prevalent AD cases (n = 428) with participants with no cognitive impairment (n = 524) revealed a significant association of rs6656401 and rs3818361 (CR1), rs2075650 (TOMM40), rs7561528 (BIN1), and rs3865444 (CD33) with late-onset AD that were robust to adjustment with age and apolipoprotein E ε4 genotype. 24176626 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation GWASDB ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. 24770881 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation GWASCAT ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. 24770881 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI  = 4.03 × 10(-05), pBMI corr  = 2.50 × 10(-03) ; rs3851179 at PICALM; pBMI  = 0.002, rs2075650 at TOMM40/APOE, pBMI  = 0.024, rs3865444 at CD33, pBMI  = 0.024). 24788522 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
G 0.900 GeneticVariation GWASDB Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. 24755620 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE Three SNPs [rs429358 in APOE: odds ratio (OR)=4.24, 95% confidence interval (CI)=3.01-5.96, P=1.23×10; rs2075650 in APOE: OR=3.57, 95% CI=2.51-5.06, P=1.23×10; and rs677909 in PICALM: OR=0.63, 95% CI=0.49-0.81, P=0.00036, log additive model] were significantly associated with AD susceptibility after correction for multiple testing. 22975751 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE There were four significant associations between genotypes and phenotypes of AD patients: CR1 SNP rs11803956 correlated with Mini-Mental State Examination (MMSE) score (β=1.718, Pcorrected=0.002); ABCA7 SNP rs3752232 correlated with Rey Complex Figure Test (RCFT) copy score (β=-6.861, Pcorrected=0.013); APOE SNP rs2075650 correlated with the percentile of RCFT copy score (β=14.005, Pcorrected=0.021) and the percentile of total score in phonemic fluency (β=11.052, Pcorrected=0.035). 24530172 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE Only TOMM40 rs2075650 showed association with clinical AD after adjusting for APOE-ε4 (p = 0.007), but not after multiple test correction (p>0.05). 23573206 2013
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation BEFREE Recently, the rs2075650 single nucleotide polymorphism in the translocase of outer mitochondrial membrane 40 homolog (TOMM40) gene was identified as a risk factor for AMD and Alzheimer disease. 24146538 2013
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation GWASDB Genome-wide association analysis of age-at-onset in Alzheimer's disease. 22005931 2012
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation GWASDB Genome-wide association study of Alzheimer's disease with psychotic symptoms. 22005930 2012
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.900 GeneticVariation GWASDB Genome-wide association study of Alzheimer's disease. 22832961 2012