Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1026300967 | 1.000 | 1 | 156868246 | missense variant | T/C | snv | 2 | ||||
rs1045118320 | 0.925 | 9 | 128332219 | missense variant | C/A | snv | 7.0E-06 | 3 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 36 | |||
rs1057517825 | 0.925 | 22 | 23834143 | missense variant | G/A | snv | 4 | ||||
rs1057519430 | 0.925 | X | 41346946 | missense variant | C/T | snv | 5 | ||||
rs1057519927 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 18 | |||
rs1057521083 | 0.925 | 0.200 | 2 | 199348709 | missense variant | G/A | snv | 4 | |||
rs1060502716 | 1.000 | 0.080 | 22 | 28695874 | splice acceptor variant | C/A;G;T | snv | 3 | |||
rs1064793083 | 0.882 | 0.080 | 8 | 60828682 | missense variant | C/T | snv | 4 | |||
rs1064794957 | 17 | 42317182 | missense variant | G/A;C | snv | 1 | |||||
rs111033178 | 0.851 | 0.200 | 11 | 77190108 | missense variant | G/A | snv | 7.5E-05 | 5.6E-05 | 6 | |
rs111033284 | 11 | 77156991 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 2 | |||
rs113001196 | 0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv | 5 | |||
rs1131690789 | 1.000 | X | 47181316 | frameshift variant | AG/- | delins | 2 | ||||
rs1131692232 | 0.851 | 0.160 | 8 | 143818426 | inframe deletion | GGGCAAAGG/- | delins | 6 | |||
rs1131692280 | 0.925 | 0.120 | 4 | 88043458 | splice donor variant | G/A | snv | 8.0E-06 | 1.4E-05 | 3 | |
rs116128702 | 1.000 | 5 | 13923369 | stop gained | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 4 | |||
rs1189399471 | 1.000 | 1 | 197103099 | frameshift variant | T/- | del | 2 | ||||
rs121434407 | 0.882 | 0.120 | 9 | 128536414 | missense variant | G/A | snv | 2.7E-04 | 9.8E-05 | 5 | |
rs121908171 | 0.925 | 0.080 | 6 | 57194817 | stop gained | A/T | snv | 2.8E-04 | 3.6E-04 | 3 | |
rs121909283 | 0.882 | 0.120 | 10 | 70435399 | stop gained | C/A;T | snv | 3.1E-04 | 4 | ||
rs121909574 | 0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 | 17 | ||
rs121912880 | 0.882 | 0.080 | 12 | 47986353 | missense variant | C/A;T | snv | 3 | |||
rs121918374 | 0.882 | 0.080 | 17 | 81934326 | missense variant | C/G;T | snv | 7.7E-05 | 4 | ||
rs121918490 | 0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv | 5 |