Variant Gene Disease Risk Allele 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 2015
dbSNP: rs10524523
rs10524523
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
CUI: C0751713
Disease:
Inclusion Body Myopathy, Sporadic
0.010 GeneticVariation BEFREE Because of the similarities between Alzheimer's disease and sporadic inclusion body myositis (s-IBM), and the importance of amyloid-β and mitochondrial changes in s-IBM, we investigated whether variation in poly-T repeat lengths in rs10524523 also influence susceptibility and age at onset in a cohort of 90 Caucasian s-IBM patients (55 males; age 69.1 ± 9.6). 24103330 2013