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: 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: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0242383
Disease:
Age related macular degeneration
0.820 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 2013
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0242383
Disease:
Age related macular degeneration
0.820 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 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 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: C0002395
Disease:
Alzheimer's Disease
0.860 GeneticVariation GWASDB Genome-wide scan of copy number variation in late-onset Alzheimer's disease. 20061627 2010
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 GWASDB Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. 24755620 2015
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.860 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: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.860 GeneticVariation GWASDB ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. 24770881 2015
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.860 GeneticVariation GWASDB Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. 19734902 2009
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.860 GeneticVariation GWASCAT Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. 20885792 2011
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 GWASDB Genome-wide association study of Alzheimer's disease with psychotic symptoms. 22005930 2013
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.860 GeneticVariation GWASDB Genome-wide association analysis of age-at-onset in Alzheimer's disease. 22005931 2013
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 GWASDB Genome-wide analysis of genetic loci associated with Alzheimer disease. 20460622 2010
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.860 GeneticVariation GWASCAT Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. 19734902 2009
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.860 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: C0002395
Disease:
Alzheimer's Disease
0.860 GeneticVariation GWASDB Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. 20885792 2011
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.860 GeneticVariation GWASCAT Genome-wide analysis of genetic loci associated with Alzheimer disease. 20460622 2010
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.860 GeneticVariation GWASDB Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949 2009
dbSNP: rs2075650
rs2075650
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0002395
Disease:
Alzheimer's Disease
0.860 GeneticVariation GWASDB Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. 19734903 2009
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