Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs157582
rs157582
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0349198
Disease:
Acute transient psychotic disorder
0.700 GeneticVariation GWASCAT Genome-wide association study of Alzheimer's disease with psychotic symptoms. 22005930 2012
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0242383
Disease:
Age related macular degeneration
A 0.830 GeneticVariation GWASCAT GWAS meta-analysis confirmed previously reported association of variants at the complement factor H (CFH) (peak P = 1.5×10(-31)) and age-related maculopathy susceptibility 2 (ARMS2) (P = 4.3×10(-24)) loci, and suggested Apolipoprotein E (ApoE) polymorphisms (rs2075650; P = 1.1×10(-6)) associated with early AMD. 23326517 2013
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0242383
Disease:
Age related macular degeneration
0.830 GeneticVariation BEFREE Our data provide no evidence to support an association of rs2075650 in TOMM40 with nAMD or PCV, suggesting that this gene is unlikely to be a major AMD and PCV susceptibility gene locus in the Chinese population. 24146538 2013
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0242383
Disease:
Age related macular degeneration
A 0.830 GeneticVariation GWASDB GWAS meta-analysis confirmed previously reported association of variants at the complement factor H (CFH) (peak P = 1.5×10(-31)) and age-related maculopathy susceptibility 2 (ARMS2) (P = 4.3×10(-24)) loci, and suggested Apolipoprotein E (ApoE) polymorphisms (rs2075650; P = 1.1×10(-6)) associated with early AMD. 23326517 2013
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0242383
Disease:
Age related macular degeneration
0.830 GeneticVariation BEFREE In conclusion, our study did not confirm the impact of rs2075650 on advanced AMD risk, indicating that rs2075650 is unlikely a superior marker for APOE/TOMM40 susceptible region with advanced AMD in Han Chinese population. 25304313 2015
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0242383
Disease:
Age related macular degeneration
A 0.830 GeneticVariation GWASDB Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. 22694956 2012
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0242383
Disease:
Age related macular degeneration
A 0.830 GeneticVariation GWASCAT Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. 22694956 2012
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0242383
Disease:
Age related macular degeneration
0.830 GeneticVariation BEFREE GWAS meta-analysis confirmed previously reported association of variants at the complement factor H (CFH) (peak P = 1.5×10(-31)) and age-related maculopathy susceptibility 2 (ARMS2) (P = 4.3×10(-24)) loci, and suggested Apolipoprotein E (ApoE) polymorphisms (rs2075650; P = 1.1×10(-6)) associated with early AMD. 23326517 2013
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3
0.010 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: rs10524523
rs10524523
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE A variable poly-T length polymorphism at rs10524523, within intron 6 of the translocase of the outer mitochondrial membrane (TOMM40) gene, has been shown to influence age of onset in LOAD, with very long (VL) poly-T length associated with earlier disease onset, and short poly-T length associated with later onset. 21784354 2011
dbSNP: rs10524523
rs10524523
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE In two independent clinical cohorts, longer lengths of rs10524523 are associated with a higher risk for LOAD. 20029386 2010
dbSNP: rs10524523
rs10524523
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect the APOE ε4-dependent association in LOAD. 25500937 2014
dbSNP: rs10524523
rs10524523
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE We conclude that in the carriers of TOMM40-APOE haplotypes comprising E4 allele, the TOMM40 rs10524523 allele does not play substantial role in establishing LOAD risk. 22008263 2012
dbSNP: rs10524523
rs10524523
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE We investigated the genomic region spanning the Translocase of the Outer Mitochondrial Membrane 40-kD (TOMM40) and Apolipoprotein E (APOE) genes, that has been associated with the risk and age of onset of late-onset Alzheimer's disease (LOAD) to determine whether a highly polymorphic, intronic poly-T within this region (rs10524523; hereafter, 523) affects expression of the APOE and TOMM40 genes. 24439168 2014
dbSNP: rs10524523
rs10524523
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE A variable-length poly-T variant in intron 6 of the TOMM40 gene, rs10524523, is associated with risk and age-of-onset of sporadic (late-onset) Alzheimer's disease. 28768149 2017
dbSNP: rs10524523
rs10524523
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE The very long (VL) poly-T variant at rs10524523 ("523") of the TOMM40 gene may hasten the onset of late-onset Alzheimer's disease (LOAD) and induce more profound cognitive impairment compared with the short (S) poly-T variant. 25862420 2015
dbSNP: rs10524523
rs10524523
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.080 GeneticVariation BEFREE We found a significant association between rs10524523 and risk of LOAD in APOE 33 homozygotes but in the opposite direction as the previously reported association (the very long allele was underrepresented in cases vs controls in this study (P = .004]). 21825236 2011
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.020 GeneticVariation BEFREE Our findings suggest that rs2075650 of TOMM40 could be involved in earlier presentation of LOAD in the Colombian population. 27023435 2017
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.020 GeneticVariation BEFREE Both allelic and genotypic associations of three SNPs (rs157580, rs2075650, and rs11556505) with LOAD risk were observed in the total sample as well as in the non- APOE ε4 carriers. 23288655 2013
dbSNP: rs11556505
rs11556505
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE Both allelic and genotypic associations of three SNPs (rs157580, rs2075650, and rs11556505) with LOAD risk were observed in the total sample as well as in the non- APOE ε4 carriers. 23288655 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 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
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