Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11095197
rs11095197
Entrez Id: 257397
Gene Symbol: TAB3
TAB3
CUI: C0009447
Disease:
Common Variable Immunodeficiency
0.700 GeneticVariation GWASDB Genome-wide association identifies diverse causes of common variable immunodeficiency. 21497890 2011
dbSNP: rs754992859
rs754992859
Entrez Id: 257397
Gene Symbol: TAB3
TAB3
CUI: C0017601
Disease:
Glaucoma
0.010 GeneticVariation BEFREE In addition, we demonstrate that the glaucoma-associated optineurin E50K mutation not only enhances the interaction between optineurin and TBK1 but also alters the oligomeric state of optineurin, and the ALS-related TBK1 E696K mutation specifically disrupts the optineurin/TBK1 complex formation but has little effect on the NAP1/TBK1 complex. 27620379 2016