Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4841588 | 1.000 | 0.080 | 8 | 11756716 | non coding transcript exon variant | G/T | snv | 0.19 | 3 | ||
rs1185861796 | 1.000 | 0.080 | 8 | 11758339 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs115099192 | 0.827 | 0.080 | 8 | 11758366 | missense variant | C/A;G | snv | 5.1E-04; 6.8E-05 | 5 | ||
rs56208331 | 0.925 | 0.080 | 8 | 11758419 | missense variant | G/A;T | snv | 2.0E-03 | 4 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs774966208 | 1.000 | 0.080 | 9 | 136523014 | missense variant | C/G;T | snv | 1 | |||
rs563655306 | 0.925 | 0.080 | 6 | 139373371 | missense variant | T/C | snv | 3.2E-03 | 2.0E-03 | 2 | |
rs104893902 | 0.925 | 0.080 | 5 | 173232888 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs104893905 | 0.925 | 0.080 | 5 | 173232898 | missense variant | G/A | snv | 4.4E-06 | 2 | ||
rs28936670 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 17 | |
rs201442000 | 0.925 | 0.080 | 5 | 173235019 | missense variant | T/C;G | snv | 1.3E-04; 4.1E-06 | 2 | ||
rs2277923 | 0.752 | 0.160 | 5 | 173235021 | synonymous variant | T/C | snv | 0.41 | 0.44 | 13 | |
rs104893904 | 0.807 | 0.160 | 5 | 173235023 | missense variant | C/G | snv | 1.1E-03 | 7.1E-04 | 6 | |
rs864622513 | 1.000 | 0.080 | 19 | 18868791 | missense variant | A/G | snv | 1.1E-03 | 1.1E-04 | 1 | |
rs121434424 | 1.000 | 0.080 | 19 | 18869231 | missense variant | C/A;T | snv | 2.1E-04 | 1 | ||
rs181317402 | 0.925 | 0.080 | 19 | 18896591 | 5 prime UTR variant | A/C | snv | 2.1E-03 | 3 | ||
rs372187772 | 1.000 | 0.080 | 22 | 18913477 | stop gained | G/A;C | snv | 9.8E-06; 4.9E-06 | 2 | ||
rs1445910672 | 1.000 | 0.080 | 22 | 19761255 | stop gained | G/A;T | snv | 1 | |||
rs288979 | 1.000 | 0.080 | 18 | 21031282 | intron variant | A/G | snv | 0.21 | 1 | ||
rs56085230 | 1.000 | 0.080 | 18 | 21042578 | synonymous variant | G/A | snv | 6.7E-03 | 6.3E-03 | 1 | |
rs387906816 | 0.882 | 0.080 | 18 | 22171695 | missense variant | G/A | snv | 8.4E-04 | 1.5E-04 | 4 | |
rs387906814 | 1.000 | 0.080 | 18 | 22171736 | missense variant | C/G | snv | 6.6E-05 | 6.7E-04 | 1 | |
rs387906818 | 0.882 | 0.120 | 18 | 22181516 | missense variant | C/T | snv | 3 | |||
rs368858287 | 1.000 | 0.080 | 18 | 22200684 | missense variant | G/C;T | snv | 1.4E-05 | 1 |