Fig 2. Distilled evidence supporting T1D variants and candidate genes in the T1DKP.

The T1DKP provides distillations of human genetic results for researchers. (A) The summary page for the CTLA4 gene provides evidence that this gene affects T1D risk, including results providing “very strong” support from the HuGE calculator and strong evidence for T1D association from MAGMA. (B) A “T1D effector genes” list predicts CTLA4 as a “causal” gene for T1D based on genetic, perturbation, and gene regulatory evidence. (C) Predicting causal mechanisms at the 6q15 locus. (top) Prioritizing variants with evidence for affecting T1D risk based on significant association and 99% credible sets. (middle) Prioritizing variants overlapping cCREs active in T1D-enriched cell types and tissues. (bottom) Prioritizing genes linked to variants in cCREs in specific cell types and tissues. From these analyses, 2 variants are predicted as causal candidates for T1D at this locus, which are linked to multiple candidate genes including BACH2 in immune cells.