Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2074388 | 1.000 | 4 | 112431241 | missense variant | G/A | snv | 0.62 | 0.65 | 3 | ||
rs5072 | 11 | 116836867 | intron variant | A/G | snv | 0.89 | 5 | ||||
rs777407596 | 11 | 116837145 | missense variant | C/G;T | snv | 4.0E-06 | 2 | ||||
rs5104 | 11 | 116821618 | missense variant | C/T | snv | 0.80 | 0.85 | 2 | |||
rs662799 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 33 | ||
rs3135506 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 26 | ||
rs651821 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 17 | |
rs2075291 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 15 | ||
rs574363219 | 1.000 | 0.040 | 11 | 116790427 | missense variant | C/T | snv | 1.4E-04 | 2 | ||
rs777046568 | 1.000 | 0.080 | 11 | 116790802 | frameshift variant | G/- | del | 6.0E-05 | 7.0E-06 | 2 | |
rs149808404 | 11 | 116790406 | stop gained | G/A;C | snv | 4.1E-05; 8.1E-06 | 1 | ||||
rs120074114 | 19 | 44948767 | missense variant | A/C | snv | 6.9E-04 | 7.0E-04 | 2 | |||
rs5128 | 0.925 | 0.080 | 11 | 116832924 | 3 prime UTR variant | G/C | snv | 0.84 | 0.87 | 8 | |
rs2854116 | 0.807 | 0.200 | 11 | 116829453 | upstream gene variant | C/T | snv | 0.51 | 7 | ||
rs2854117 | 0.851 | 0.200 | 11 | 116829426 | upstream gene variant | T/A;C | snv | 6 | |||
rs429358 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 66 | |
rs7412 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 47 | |
rs11542041 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 23 | ||
rs267606661 | 0.763 | 0.120 | 19 | 44909101 | missense variant | C/G;T | snv | 3.9E-04; 1.0E-05 | 10 | ||
rs573658040 | 0.790 | 0.200 | 19 | 44908705 | missense variant | C/G;T | snv | 6.3E-06 | 9 | ||
rs121918393 | 0.851 | 0.120 | 19 | 44908756 | missense variant | C/A;T | snv | 1.3E-05; 9.0E-05 | 6 | ||
rs121918394 | 0.882 | 0.080 | 19 | 44908786 | missense variant | A/C;G | snv | 6.5E-06 | 5 | ||
rs140808909 | 0.851 | 0.120 | 19 | 44909080 | missense variant | G/A | snv | 2.0E-04 | 5.6E-05 | 5 | |
rs267606664 | 0.851 | 0.120 | 19 | 44908730 | missense variant | G/A;C | snv | 1.6E-04; 6.3E-06 | 5 | ||
rs199768005 | 0.882 | 0.160 | 19 | 44909057 | missense variant | T/A | snv | 4.5E-04 | 4.9E-04 | 4 |