Table 1 Fine-mapping of PSC risk loci
From: Fine-mapping and molecular characterisation of primary sclerosing cholangitis genetic risk loci
Region | Fine-mapping | |||||||
|---|---|---|---|---|---|---|---|---|
Chr | Candidate gene | Lead GWAS SNP | Position (b37) | Signal | SNP PPmax | Position (b37) | PP Causal | Credible set size |
1 | MMEL1 | rs3748816 | 2526745 | 1 | rs61763697 | 2810791 | 0.07 | 62 |
2 | BCL211 | rs72837826 | 111933001 | 1 | rs72837826 | 111933001 | 0.18 | 12 |
2 | CD28 | rs7426056 | 204612058 | 1 | rs5837875 | 204647878 | 0.19 | 6 |
2 | rs231799 | 204707417 | 0.17 | 24 | ||||
3 | MST1 | rs3197999 | 49721532 | 1 | rs11716895 | 49762779 | 0.11 | 13 |
2 | rs13083791 | 49721798 | 0.07 | 122 | ||||
3 | FOXP1 | rs80060485 | 71153890 | 1 | rs80060485 | 71153890 | 0.99 | 1 |
2 | rs36023390 | 71523093 | 0.14 | 2 | ||||
4 | IL2-IL21 | rs13140464 | 123499745 | 1 | rs13119723 | 123218313 | 0.09 | 50 |
6 | BACH2 | rs56258221 | 91030441 | 1 | rs7750271 | 91036225 | 0.20 | 12 |
10 | IL2RA | rs4147359 | 6108439 | 1 | rs4147359 | 6108439 | 0.46 | 5 |
11 | CCDC88B | rs663743 | 64107735 | 1 | rs35247680 | 63884747 | 0.61 | 2 |
2 | rs663743 | 64107735 | 0.41 | 2 | ||||
12 | SH2B3 | rs3184504 | 111884608 | 1 | rs3184504 | 111884608 | 0.99 | 1 |
16 | CLEC16A | rs725613 | 11169683 | 1 | rs725613 | 11169683 | 0.16 | 12 |
18 | CD226 | rs1788097 | 67543688 | 1 | rs1610555 | 67543147 | 0.08 | 44 |
19 | PRKD2 | rs313839 | 47221557 | 1 | rs313839 | 47221557 | 0.23 | 14 |
21 | ETS2 | rs2836883 | 40466744 | 1 | rs4817988 | 40468838 | 0.58 | 10 |
21 | UBASH3A | rs1893592 | 43855067 | 1 | rs1893592 | 43855067 | 0.62 | 5 |