Table 1.
Characteristics of disease associated variants at sixteen SLE risk loci.
Risk locus | Signal | Peak SNP | Minor allele | Odds ratio (Minor allele) | Allele Freq. (Cases) | Allele Freq. (Controls) | SLE association P-value | SLE associated Annotated variants |
Variants in LD with peak SNP (D' >0.8) | ||
---|---|---|---|---|---|---|---|---|---|---|---|
Total variants | Total potentially functional variants | Total coding variants | |||||||||
STAT4 | 1 | rs12612769 | C | 1.7 | 0.29 | 0.19 | 5E-10 | 52 | 49 | 9 | 0 |
HLA-D | 1 | rs9271593 (XL9) | C | 1.7 | 0.55 | 0.42 | 7E-10 | 835 | 530 | 398 | 0 |
2 | rs9274678 (DQB1) | G | 2.1 | 0.24 | 0.13 | 6E-09 | 736 | 216 | 69 | 0 | |
3 | rs36101847 (DRB1) | T | 0.5 | 0.13 | 0.23 | 8E-09 | 760 | 296 | 126 | 0 | |
ITGAM-ITGAX | 1 | rs41476751 | C | 1.9 | 0.25 | 0.15 | 8E-09 | 153 | 121 | 62 | 3 |
IRF5_TNPO3 | 1 | rs34350562 | G | 1.8 | 0.23 | 0.14 | 3E-09 | 245 | 189 | 124 | 0 |
UBE2L3 | 1 | rs181366 | T | 1.5 | 0.27 | 0.20 | 2E-07 | 82 | 79 | 55 | 1 |
BANK1 | 1 | rs4699260 | T | 0.7 | 0.20 | 0.28 | 9E-06 | 267 | 143 | 29 | 2 |
TNIP1 | 1 | rs62382335 | A | 1.4 | 0.14 | 0.10 | 6E-05 | 46 | 22 | 16 | 0 |
TNFAIP3 | 1 | rs57087937 | T | 1.9 | 0.10 | 0.06 | 2E-06 | 69 | 63 | 40 | 1 |
CCL22-CX3CL1 | 1 | rs223889 | T | 1.5 | 0.34 | 0.27 | 5E-07 | 32 | 25 | 20 | 0 |
RAVER1-ZGLP1 | 1 | rs35186095 | T | 1.3 | 0.21 | 0.17 | 2E-04 | 43 | 24 | 19 | 0 |
ICA1 | 1 | rs74787882 | A | 0.7 | 0.06 | 0.09 | 2E-03 | 34 | 10 | 6 | 0 |
TNFSF4 | 1 | rs1819717 | G | 0.7 | 0.29 | 0.36 | 2E-05 | 73 | 30 | 14 | 0 |
2 | rs4916313 | C | 1.3 | 0.39 | 0.32 | 2E-04 | 30 | 21 | 0 | ||
BLK | 1 | rs7822109 | C | 0.8 | 0.46 | 0.52 | 9E-05 | 97 | 61 | 38 | 0 |
XKR6 | 1 | rs4840545 | A | 2.0 | 0.13 | 0.07 | 1E-07 | 335 | 51 | 23 | 0 |
2 | rs7000132 | C | 0.9 | 0.42 | 0.46 | 5E-04 | 178 | 118 | 0 | ||
NMNAT2-SMG7 | 1 | rs41272536 | G | 2.9 | 0.11 | 0.05 | 2E-08 | 33 | 8 | 8 | 0 |
2 | rs111487113 | A | 0.6 | 0.13 | 0.18 | 5E-04 | 17 | 5 | 0 | ||
ETS1 | 1 | rs34516251 | A | 0.8 | 0.18 | 0.21 | 7E-03 | 18 | 10 | 6 | 0 |