Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137852769 | 0.827 | 0.280 | 2 | 26195184 | missense variant | C/G | snv | 1.2E-03 | 1.0E-03 | 7 | |
rs80338797 | 0.827 | 0.160 | 3 | 12584624 | missense variant | G/C;T | snv | 7 | |||
rs121918490 | 0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv | 6 | |||
rs386834236 | 0.882 | 0.120 | 17 | 80104542 | intron variant | T/G | snv | 3.4E-03 | 3.8E-03 | 6 | |
rs111033178 | 0.851 | 0.200 | 11 | 77190108 | missense variant | G/A | snv | 7.5E-05 | 5.6E-05 | 6 | |
rs1131692232 | 0.851 | 0.160 | 8 | 143818426 | inframe deletion | GGGCAAAGG/- | delins | 6 | |||
rs775883520 | 0.851 | 0.240 | 8 | 93780603 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 6 | |
rs121918550 | 1.000 | 0.080 | 12 | 53309624 | missense variant | A/G | snv | 1.2E-04 | 4.9E-05 | 5 | |
rs869025340 | 0.925 | 0.160 | 7 | 140777032 | missense variant | A/C;G;T | snv | 5 | |||
rs878853160 | 0.882 | 0.120 | 7 | 40046007 | missense variant | A/G | snv | 5 | |||
rs1057519430 | 0.925 | X | 41346946 | missense variant | C/T | snv | 5 | ||||
rs113001196 | 0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv | 5 | |||
rs869312953 | 0.851 | 0.120 | 1 | 64846735 | missense variant | G/T | snv | 5 | |||
rs199472921 | 0.882 | 0.120 | 7 | 150951712 | missense variant | C/G;T | snv | 5 | |||
rs782297546 | 0.925 | 0.240 | 11 | 118473471 | frameshift variant | C/-;CC | delins | 5 | |||
rs587783685 | 0.925 | 0.120 | 12 | 49032113 | stop gained | G/A | snv | 5 | |||
rs121434407 | 0.882 | 0.120 | 9 | 128536414 | missense variant | G/A | snv | 2.7E-04 | 9.8E-05 | 5 | |
rs864309503 | 0.882 | 0.200 | 22 | 30941503 | missense variant | G/A | snv | 5 | |||
rs137852863 | 0.882 | 0.120 | 5 | 61073136 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 5 | |
rs587776934 | 0.851 | 0.320 | 19 | 18162974 | missense variant | G/A | snv | 5 | |||
rs397514481 | 0.882 | 0.040 | 20 | 9409080 | missense variant | G/A;T | snv | 5 | |||
rs397507529 | 0.851 | 0.160 | 12 | 112473031 | missense variant | A/G | snv | 7.0E-06 | 5 | ||
rs137853229 | 0.851 | 0.240 | 8 | 144513412 | stop gained | G/A | snv | 1.2E-04 | 8.4E-05 | 5 | |
rs201108965 | 0.851 | 0.320 | 11 | 61393965 | missense variant | G/A;T | snv | 8.0E-06; 1.7E-04 | 5 | ||
rs137852217 | 0.925 | 0.040 | X | 64192215 | stop gained | G/A;T | snv | 1.6E-05 | 4 |