Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4072037 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 22 | ||
rs6593803 | 1.000 | 0.120 | 1 | 147733635 | intergenic variant | C/T | snv | 0.22 | 2 | ||
rs1990760 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 33 | |
rs1130866 | 0.827 | 0.160 | 2 | 85666618 | missense variant | G/A;C | snv | 0.50 | 9 | ||
rs7572733 | 0.925 | 0.120 | 2 | 198065082 | intron variant | C/T | snv | 0.43 | 4 | ||
rs749885909 | 2 | 38004143 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs10936599 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 32 | |
rs12638862 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 10 | ||
rs12696304 | 0.776 | 0.320 | 3 | 169763483 | downstream gene variant | C/G | snv | 0.38 | 10 | ||
rs1317082 | 0.882 | 0.200 | 3 | 169779797 | non coding transcript exon variant | A/G | snv | 0.21 | 6 | ||
rs6793295 | 0.827 | 0.240 | 3 | 169800667 | missense variant | T/C;G | snv | 0.37; 1.8E-04 | 6 | ||
rs10936601 | 1.000 | 0.160 | 3 | 169810661 | intron variant | C/T | snv | 0.37 | 2 | ||
rs12630450 | 1.000 | 0.160 | 3 | 169762416 | downstream gene variant | A/G | snv | 0.33 | 2 | ||
rs3821383 | 1.000 | 0.160 | 3 | 169772158 | upstream gene variant | A/C;G;T | snv | 2 | |||
rs7633750 | 1.000 | 0.160 | 3 | 169791456 | upstream gene variant | G/A | snv | 0.38 | 2 | ||
rs1920120 | 3 | 169784392 | intron variant | T/A;C | snv | 1 | |||||
rs1997392 | 3 | 169791864 | upstream gene variant | C/T | snv | 0.33 | 1 | ||||
rs2141595 | 3 | 169785644 | intron variant | C/T | snv | 0.36 | 1 | ||||
rs7625734 | 3 | 169791127 | upstream gene variant | T/A;C;G | snv | 1 | |||||
rs9831661 | 3 | 169810735 | intron variant | G/T | snv | 0.37 | 1 | ||||
rs9860874 | 3 | 169768483 | intron variant | C/A | snv | 0.33 | 1 | ||||
rs2869967 | 0.827 | 0.120 | 4 | 88948181 | intron variant | T/C | snv | 0.49 | 11 | ||
rs2869966 | 1.000 | 0.040 | 4 | 88947927 | intron variant | C/T | snv | 0.47 | 9 | ||
rs7671167 | 0.925 | 0.040 | 4 | 88962828 | intron variant | C/T | snv | 0.53 | 7 | ||
rs2045517 | 4 | 88949813 | intron variant | C/T | snv | 0.49 | 5 |