Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs1136201 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 34 | ||
rs1800624 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 33 | |||
rs965513 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 15 | |||
rs1137282 | 0.851 | 0.120 | 12 | 25209843 | missense variant | A/G;T | snv | 0.19 | 5 | ||
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs1057519903 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 28 | |||
rs1047781 | 0.790 | 0.200 | 19 | 48703374 | missense variant | A/T | snv | 3.6E-02 | 1.2E-02 | 11 | |
rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
rs7034162 | 0.882 | 0.040 | 9 | 14190288 | intron variant | A/T | snv | 0.81 | 4 | ||
rs121913227 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 31 | |||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs34296044 | 0.925 | 0.080 | 1 | 241885371 | frameshift variant | C/- | delins | 3 | |||
rs16901979 | 0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 | 17 | ||
rs629367 | 0.776 | 0.200 | 11 | 122146306 | intron variant | C/A | snv | 0.88 | 11 | ||
rs2055979 | 0.827 | 0.320 | 4 | 122619586 | intron variant | C/A | snv | 0.23 | 6 | ||
rs514049 | 0.827 | 0.160 | 15 | 58750164 | intron variant | C/A | snv | 0.57 | 6 | ||
rs2660852 | 12 | 96051770 | intergenic variant | C/A | snv | 0.34 | 3 | ||||
rs1317052311 | X | 15358134 | missense variant | C/A | snv | 5.5E-06 | 1 | ||||
rs71310379 | 3 | 179199003 | missense variant | C/A | snv | 4.4E-05 | 4.2E-05 | 1 | |||
rs2229080 | 0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 | 16 | ||
rs10964859 | 9 | 21140673 | 3 prime UTR variant | C/A;G | snv | 1 | |||||
rs10964862 | 9 | 21151554 | intergenic variant | C/A;G | snv | 1 | |||||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 |