Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs5767700 | 22 | 46216775 | intron variant | T/C;G | snv | 1 | |||||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs4938723 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 60 | ||
rs2119882 | 0.807 | 0.320 | 4 | 186555751 | upstream gene variant | T/C | snv | 0.57 | 9 | ||
rs301 | 0.925 | 0.160 | 8 | 19959423 | intron variant | T/C | snv | 0.24 | 0.26 | 7 | |
rs11635252 | 0.925 | 0.080 | 15 | 90528542 | upstream gene variant | T/C | snv | 0.88 | 4 | ||
rs5767743 | 22 | 46226097 | intron variant | T/C | snv | 0.36 | 1 | ||||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs16139 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 36 | ||
rs13702 | 0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv | 7 | |||
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 98 | ||
rs11066280 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 27 | ||
rs1800544 | 0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 | 12 | ||
rs1431648262 | 8 | 26756585 | 3 prime UTR variant | G/C | snv | 1.2E-05 | 2 | ||||
rs1572982 | 0.827 | 0.200 | 6 | 26094139 | intron variant | G/A;T | snv | 0.52; 8.0E-06 | 7 | ||
rs1917760 | 7 | 143262206 | intron variant | G/A;T | snv | 1.8E-02 | 1 | ||||
rs4988235 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 19 | |||
rs182052 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 19 | ||
rs17249754 | 0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 | 12 | ||
rs2331841 | 1.000 | 0.080 | 18 | 60161404 | upstream gene variant | G/A | snv | 0.43 | 5 | ||
rs60662302 | 0.882 | 0.200 | 1 | 156138593 | missense variant | G/A | snv | 2.1E-04 | 7.7E-04 | 5 | |
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs8192678 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 28 |