Source: ALL
Variant Gene Disease 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
0.860 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
0.860 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
0.860 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
0.860 GeneticVariation BEFREE CONCLUSIONS" Results from the meta-analysis revealed that the pooled ABCA7 rs376465, CD33 rs3865444, TOMM40 rs157580, and rs2075650 variants were significantly associated with the susceptibility to AD. 26795201 2016
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.860 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: C0002395
Disease:
Alzheimer's Disease
0.860 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 2016
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0242383
Disease:
Age related macular degeneration
0.820 GeneticVariation BEFREE No evidence of association between variant rs2075650 in lipid metabolism-related locus APOE/TOMM40 and advanced age-related macular degeneration in Han Chinese population. 25304313 2015
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0242383
Disease:
Age related macular degeneration
0.820 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: rs157580
rs157580
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.810 GeneticVariation BEFREE CONCLUSIONS" Results from the meta-analysis revealed that the pooled ABCA7 rs376465, CD33 rs3865444, TOMM40 rs157580, and rs2075650 variants were significantly associated with the susceptibility to AD. 26795201 2016
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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