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 | |||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
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 | |
rs2234922 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 42 | ||
rs768623239 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 26 | ||
rs2295080 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 20 | |||
rs1476413 | 0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 | 10 | |
rs1194611372 | 0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv | 9 | |||
rs760805 | 0.776 | 0.240 | 1 | 24925432 | intron variant | A/T | snv | 0.42 | 9 | ||
rs1883965 | 0.807 | 0.160 | 1 | 11262099 | intron variant | A/G | snv | 0.63 | 8 | ||
rs2067079 | 0.807 | 0.240 | 1 | 173866073 | non coding transcript exon variant | C/T | snv | 0.22 | 0.18 | 7 | |
rs6790 | 0.790 | 0.320 | 1 | 173865494 | non coding transcript exon variant | G/A | snv | 8.9E-02 | 7 | ||
rs8679 | 0.790 | 0.200 | 1 | 226360853 | 3 prime UTR variant | A/G | snv | 0.16 | 7 | ||
rs10759 | 0.851 | 0.160 | 1 | 163076561 | 3 prime UTR variant | G/A;T | snv | 4 | |||
rs11249206 | 0.851 | 0.160 | 1 | 24951491 | intron variant | C/T | snv | 0.48 | 4 | ||
rs140241283 | 0.882 | 0.120 | 1 | 11796249 | start lost | A/G;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs1484761909 | 0.882 | 0.120 | 1 | 109688224 | missense variant | A/G | snv | 3.0E-05 | 3.8E-05 | 3 | |
rs197414 | 0.882 | 0.120 | 1 | 111766501 | missense variant | C/A;T | snv | 0.12; 4.0E-06 | 3 | ||
rs3219493 | 0.882 | 0.120 | 1 | 45330597 | intron variant | G/C | snv | 0.92 | 0.93 | 3 | |
rs8444 | 0.882 | 0.120 | 1 | 150966095 | 3 prime UTR variant | G/A | snv | 0.35 | 3 | ||
rs1056836 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 58 |