Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs157580
rs157580
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.810 GeneticVariation GWASCAT Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. 21123754 2011
dbSNP: rs157582
rs157582
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.810 GeneticVariation GWASDB Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0201657
Disease:
C-reactive protein measurement
G 0.800 GeneticVariation GWASCAT Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. 21943158 2011
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
G 0.800 GeneticVariation GWASCAT Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. 21943158 2011
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0023980
Disease:
Longevity
0.800 GeneticVariation GWASDB Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited. 21418511 2011
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0023980
Disease:
Longevity
0.800 GeneticVariation GWASCAT Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited. 21418511 2011
dbSNP: rs405697
rs405697
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.800 GeneticVariation GWASDB Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
dbSNP: rs8106922
rs8106922
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.800 GeneticVariation GWASDB The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. 21627779 2011
dbSNP: rs8106922
rs8106922
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.800 GeneticVariation GWASDB Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
dbSNP: rs8106922
rs8106922
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.800 GeneticVariation GWASDB Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. 21379329 2011
dbSNP: rs10119
rs10119
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.700 GeneticVariation GWASDB Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
dbSNP: rs157580
rs157580
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0010068
Disease:
Coronary heart disease
0.700 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0010068
Disease:
Coronary heart disease
0.700 GeneticVariation GWASDB Large-scale gene-centric analysis identifies novel variants for coronary artery disease. 21966275 2011
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C1168443
Disease:
Pseudocholinesterase Measurement
G 0.700 GeneticVariation GWASDB Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. 21943158 2011
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 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: 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 2011
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 2011
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 2011
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
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: rs157580
rs157580
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.810 GeneticVariation GWASDB Genome-wide association study of Alzheimer's disease. 22832961 2012