Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 73 | |||
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 | |||
rs3025039 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 62 | ||
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 58 | |
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs17655 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 52 | |
rs758272654 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 50 | |
rs2736098 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 48 | |
rs401681 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 42 | ||
rs1805794 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 41 | |
rs3218536 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 37 | ||
rs217727 | 0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 | 34 | ||
rs768623239 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 26 | ||
rs2839698 | 0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 | 25 | ||
rs4143815 | 0.689 | 0.400 | 9 | 5468257 | 3 prime UTR variant | G/C | snv | 0.23 | 20 | ||
rs1805377 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 19 | |
rs28360071 | 0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 | 18 | ||
rs402710 | 0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 | 18 | |
rs6869366 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 18 |