Source: ALL
Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10527454
rs10527454
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0751713
Disease:
Inclusion Body Myopathy, Sporadic
0.010 GeneticVariation BEFREE The rs10527454 polymorphism in the TOMM40 gene seems to have a disease modifying effect on sIBM by delaying the onset of symptoms, and this effect may be enhanced by the APOE ε3/ε3 genotype. 26335925 2016
dbSNP: rs157581
rs157581
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C1270972
Disease:
Mild cognitive disorder
0.010 GeneticVariation BEFREE Each individual was firstly genotyped for TOMM40 rs157581 and was further assessed by resting-state functional MRI to evaluate regional brain activity using amplitude low-frequency fluctuation analysis (ALFF). aMCI patients showed decreased ALFF in the left inferior frontal gyrus and insula, and increased ALFF in right posterior cingulate, lingual gyrus and calcarine sulcus. 24838536 2015
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 2014
dbSNP: rs115881343
rs115881343
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0338656
Disease:
Impaired cognition
0.010 GeneticVariation BEFREE We found 2 independent associations among European-Americans in the 19q13.32 region: rs769449 (APOE intron; p = 3.1 × 10(-20)) and rs115881343 (TOMM40 intron; p = 6.6 × 10(-11)). rs769449 was also associated with cognitive decline among African-Americans (p = 0.005), but rs115881343 was not. 24468470 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0041696
Disease:
Unipolar Depression
0.010 GeneticVariation BEFREE TOMM40 rs2075650 may represent a new candidate gene for vulnerability to major depressive disorder. 24549102 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0011570
Disease:
Mental Depression
0.010 GeneticVariation BEFREE Our results suggest that TOMM40 rs2075650 may be a risk factor for the development of depression characterized by reduced extraversion, impaired executive function, and decreased positive emotional recall, and reduced top-down cortical control during sad emotion processing. 24549102 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0011581
Disease:
Depressive disorder
0.010 GeneticVariation BEFREE Our results suggest that TOMM40 rs2075650 may be a risk factor for the development of depression characterized by reduced extraversion, impaired executive function, and decreased positive emotional recall, and reduced top-down cortical control during sad emotion processing. 24549102 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0338656
Disease:
Impaired cognition
0.010 GeneticVariation BEFREE The incident case study comparing patients who developed AD during longitudinal observation (n = 152) with participants with no cognitive impairment found that rs2075650 (TOMM40) and rs3865444 (CD33) influence the risk of developing AD in this population. 24176626 2014
dbSNP: rs2075650
rs2075650
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 2014
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C1269683
Disease:
Major Depressive Disorder
0.010 GeneticVariation BEFREE TOMM40 rs2075650 may represent a new candidate gene for vulnerability to major depressive disorder. 24549102 2014
dbSNP: rs157581
rs157581
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002726
Disease:
Amyloidosis
0.010 GeneticVariation BEFREE The distributions of SNPs relating to the amyloid cascade hypothesis (TOMM40 rs157581 G and TOMM40 rs2075650 G), to the cholesterol metabolism hypothesis (ApoE rs429358 C, LDLR rs11668477 G and CH25H rs7091822 T and PLAU rs2227564 CT) and to the tau hypothesis (MAPT/STH rs242562 GG) in aMCI were significantly different than those in normal controls. 22911757 2013
dbSNP: rs157590
rs157590
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C4011788
Disease:
Behavioral variant of frontotemporal dementia
0.010 GeneticVariation BEFREE Inside this region of 16.3 kb, LD (r2 = 0.14) between TOMM40 (rs157590) and APOE (rs429358) was observed in PPA, but not in bvFTD and in controls. 22710912 2013
dbSNP: rs157590
rs157590
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0282513
Disease:
Primary Progressive Aphasia (disorder)
0.010 GeneticVariation BEFREE Inside this region of 16.3 kb, LD (r2 = 0.14) between TOMM40 (rs157590) and APOE (rs429358) was observed in PPA, but not in bvFTD and in controls. 22710912 2013
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0282513
Disease:
Primary Progressive Aphasia (disorder)
0.010 GeneticVariation BEFREE Inside this region of 26.9 kb, LD (r2 ≥ 0.50) between TOMM40 (rs2075650) and APOE (rs429358) was observed in bvFTD and in controls, but not in PPA. 22710912 2013
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C4011788
Disease:
Behavioral variant of frontotemporal dementia
0.010 GeneticVariation BEFREE Inside this region of 26.9 kb, LD (r2 ≥ 0.50) between TOMM40 (rs2075650) and APOE (rs429358) was observed in bvFTD and in controls, but not in PPA. 22710912 2013
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002726
Disease:
Amyloidosis
0.010 GeneticVariation BEFREE The distributions of SNPs relating to the amyloid cascade hypothesis (TOMM40 rs157581 G and TOMM40 rs2075650 G), to the cholesterol metabolism hypothesis (ApoE rs429358 C, LDLR rs11668477 G and CH25H rs7091822 T and PLAU rs2227564 CT) and to the tau hypothesis (MAPT/STH rs242562 GG) in aMCI were significantly different than those in normal controls. 22911757 2013
dbSNP: rs10119
rs10119
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C1270972
Disease:
Mild cognitive disorder
0.010 GeneticVariation BEFREE The analysis of the discovery sample showed an association of TOMM40 single nucleotide polymorphisms with progression from MCI stage to AD (rs59007384 and rs11556510), as well as with a shorter time to progression from MCI status to AD (rs10119), though these results could not be replicated in independent series. 21752496 2012
dbSNP: rs11556510
rs11556510
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C1270972
Disease:
Mild cognitive disorder
0.010 GeneticVariation BEFREE The analysis of the discovery sample showed an association of TOMM40 single nucleotide polymorphisms with progression from MCI stage to AD (rs59007384 and rs11556510), as well as with a shorter time to progression from MCI status to AD (rs10119), though these results could not be replicated in independent series. 21752496 2012
dbSNP: rs59007384
rs59007384
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C1270972
Disease:
Mild cognitive disorder
0.010 GeneticVariation BEFREE The analysis of the discovery sample showed an association of TOMM40 single nucleotide polymorphisms with progression from MCI stage to AD (rs59007384 and rs11556510), as well as with a shorter time to progression from MCI status to AD (rs10119), though these results could not be replicated in independent series. 21752496 2012
dbSNP: rs157580
rs157580
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0520679
Disease:
Sleep Apnea, Obstructive
0.010 GeneticVariation BEFREE Multivariate logistic regression analysis with age and body mass index (BMI) as covariates revealed a significant association between OSA status and SNPs rs157580, rs405509, rs769455 and rs7412. 17658295 2008
dbSNP: rs157582
rs157582
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C1285654
Disease:
Memory performance
0.700 GeneticVariation GWASCAT Genetic variants specific to aging-related verbal memory: Insights from GWASs in a population-based cohort. 28800603 2017
dbSNP: rs157582
rs157582
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
dbSNP: rs10119
rs10119
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0009240
Disease:
Cognition
0.700 GeneticVariation GWASCAT Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949). 25644384 2016
dbSNP: rs157582
rs157582
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASCAT Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations. 26582766 2016
dbSNP: rs11556505
rs11556505
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.700 GeneticVariation GWASDB ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. 24770881 2015