Table 2. Summary of gene prioritization.
| Lead SNP | Locus* | Number of genes per locus† | Prioritized gene | Nearest gene, yes/no | Evidence for prioritization |
|---|---|---|---|---|---|
| rs11121615 | 1: 11075577 | 4 | CASZ1 | yes | L, D |
| rs2911463 | 16: 89085545‡ | 20 | PIEZO1 | yes | L, D |
| CTU2 | no | V | |||
| rs2861819 | 2: 68739221 | 8 | PPP3R1 | yes | L, E, S |
| PNO1 | no | V | |||
| rs3101725 | 5: 127774018 | 3 | SLC12A2 | yes | L |
| FBN2 | no | L | |||
| LINC01184 | no | S | |||
| rs11135046 | 5: 158480013 | 1 | EBF1 | yes | L |
| rs28558138 | 4: 27068080 | 2 | STIM2 | no | L, D |
| rs7773004 | 6: 26517755 | 41 | HFE | no | L |
| rs9880192 | 3: 128297569 | 8 | GATA2 | no | L |
| rs12625547 | 20: 50154647 | 4 | NFATC2 | yes | L |
| rs236530 | 17: 68217471 | 5 | KCNJ16 | no | - |
| KCNJ2 | yes | - | |||
| rs2241173 | 17: 70028445 | 6 | SOX9 | no | L |
| AC005152.3 (LOC102723505) | no | S | |||
| rs73107980 | 12: 48187601 | 9 | COL2A1 | no | L |
| RAPGEF3 (EPAC1) | no | L |
Bold font indicates the genes which, in our opinion, have stronger evidence for prioritization than other candidates in the locus.
D, DEPICT analysis; L, literature-based prioritization; E, expression change in VVs
S, SMR/HEIDI analysis; V, Variant Effect Predictor analysis
*Chromosome: position on chromosome according to GRCh37.p13 assembly
†Calculated based on regional association plots generated with LocusZoom tool (http://locuszoom.org/, S2 Fig)
‡This locus contains two independent association signals. SNP rs9972645 that tags the second signal is also located in the PIEZO1 gene