Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs1294950721 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 27 | ||
rs751484586 | 0.925 | 0.080 | 4 | 110618487 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
rs121918466 | 0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv | 14 | |||
rs121918455 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 31 | |||
rs1555223259 | 1.000 | 0.080 | 12 | 114355868 | stop gained | G/C | snv | 3 | |||
rs11067075 | 12 | 114361761 | intron variant | C/A | snv | 1.2E-03 | 1 | ||||
rs1555226315 | 0.925 | 0.120 | 12 | 114398639 | stop gained | C/T | snv | 4 | |||
rs387906770 | 1.000 | 8 | 11708439 | splice acceptor variant | C/A;T | snv | 2 | ||||
rs540578824 | 8 | 11708800 | missense variant | C/G;T | snv | 2.1E-05 | 1 | ||||
rs104894073 | 0.827 | 0.080 | 8 | 11750213 | missense variant | G/A;C;T | snv | 8 | |||
rs804280 | 0.882 | 0.120 | 8 | 11755189 | intron variant | C/A;G | snv | 6 | |||
rs4841587 | 1.000 | 0.080 | 8 | 11756666 | non coding transcript exon variant | G/T | snv | 0.37 | 3 | ||
rs4841588 | 1.000 | 0.080 | 8 | 11756716 | non coding transcript exon variant | G/T | snv | 0.19 | 3 | ||
rs368489876 | 1.000 | 8 | 11757012 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 | 2 | ||
rs1185861796 | 1.000 | 0.080 | 8 | 11758339 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs55633527 | 1.000 | 0.080 | 8 | 11758378 | missense variant | C/T | snv | 3.6E-03 | 3.2E-03 | 2 | |
rs56208331 | 0.925 | 0.080 | 8 | 11758419 | missense variant | G/A;T | snv | 2.0E-03 | 4 | ||
rs146017816 | 1.000 | 8 | 11758471 | missense variant | C/G;T | snv | 7.2E-05; 1.6E-05 | 2 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1555038029 | 0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv | 12 | |||
rs759125480 | 0.827 | 0.160 | 5 | 123377409 | stop gained | G/A | snv | 1.6E-05 | 16 | ||
rs80338796 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 37 | ||
rs754369510 | 0.925 | 0.040 | 9 | 131134988 | missense variant | A/G | snv | 4.0E-06 | 3 | ||
rs12190287 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 19 |