Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs3025039 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 62 | ||
rs4938723 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 60 | ||
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 51 | |||
rs2736098 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 48 | |
rs1138272 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 42 | |
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs833061 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 42 | |||
rs1805794 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 41 | |
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 | |||
rs28934575 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 37 | |||
rs920778 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 36 | ||
rs4444903 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 35 | ||
rs2070874 | 0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 | 27 | |
rs121912660 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 26 | |||
rs2071559 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 26 | ||
rs1870377 | 0.695 | 0.520 | 4 | 55106807 | missense variant | T/A | snv | 0.22 | 0.20 | 25 | |
rs2298881 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 25 | |||
rs1805377 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 19 | |
rs398652 | 0.752 | 0.240 | 14 | 56058851 | intergenic variant | G/A | snv | 0.24 | 10 |