Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs1051740 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 56 | |
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs2234922 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 42 | ||
rs689466 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 33 | ||
rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 32 | |
rs9350 | 0.742 | 0.240 | 1 | 241885372 | missense variant | C/T | snv | 0.21 | 0.19 | 16 | |
rs17568 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 12 | |
rs201765376 | 0.732 | 0.360 | 1 | 236838504 | synonymous variant | C/T | snv | 1.6E-05 | 1.4E-05 | 12 | |
rs1380576 | 0.763 | 0.240 | 1 | 204519150 | intron variant | G/C | snv | 0.57 | 10 | ||
rs11801299 | 0.807 | 0.200 | 1 | 204559956 | downstream gene variant | G/A | snv | 0.16 | 9 | ||
rs142648132 | 0.827 | 0.160 | 1 | 236816521 | missense variant | G/A;C;T | snv | 8.4E-04; 2.4E-05 | 5 | ||
rs10900598 | 0.882 | 0.120 | 1 | 204556440 | 3 prime UTR variant | G/C;T | snv | 0.38 | 4 | ||
rs762403278 | 0.851 | 0.200 | 1 | 11796244 | missense variant | T/C;G | snv | 1.6E-05; 4.0E-06 | 4 | ||
rs2742976 | 0.882 | 0.240 | 1 | 23531510 | upstream gene variant | T/A;G | snv | 3 | |||
rs3218123 | 0.925 | 0.120 | 1 | 23531364 | upstream gene variant | C/A;G | snv | 2 | |||
rs3862188 | 1.000 | 0.040 | 1 | 247702471 | intron variant | T/C | snv | 0.44 | 2 | ||
rs1034220998 | 1.000 | 0.040 | 1 | 6339497 | synonymous variant | G/A | snv | 1 | |||
rs201613442 | 1.000 | 0.040 | 1 | 74540276 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs3218148 | 1.000 | 0.040 | 1 | 23525295 | intron variant | G/A;C;T | snv | 1 | |||
rs3218203 | 1.000 | 0.040 | 1 | 23511068 | intron variant | C/A;G | snv | 1 | |||
rs3218211 | 1.000 | 0.040 | 1 | 23509302 | 3 prime UTR variant | A/G | snv | 0.48 | 1 |