Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs80338796 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 35 | ||
rs61753219 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 64 | |
rs201893408 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 28 | ||
rs180177035 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 35 | |||
rs267607048 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 12 | ||
rs61750240 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 17 | ||
rs121908119 | 0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 | 5 | |
rs587777308 | 0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv | 8 | |||
rs147001633 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 7 | ||
rs775104326 | 0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 | 10 | ||
rs886039807 | 0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 | 11 | ||
rs886041116 | 0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv | 11 | |||
rs104894621 | 0.790 | 0.080 | 17 | 15239575 | missense variant | G/A | snv | 4 | |||
rs1057520918 | 0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv | 7 | |||
rs180177040 | 0.790 | 0.360 | 7 | 140754187 | missense variant | T/C;G | snv | 9 | |||
rs398123009 | 0.790 | 0.200 | 11 | 66211206 | missense variant | C/T | snv | 7.0E-06 | 17 | ||
rs147484110 | 0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 | 11 | |
rs1555740650 | 0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv | 13 | |||
rs180177042 | 0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv | 7 | |||
rs387906702 | 0.807 | 0.200 | X | 53403635 | missense variant | A/G | snv | 16 | |||
rs61750241 | 0.807 | 0.080 | X | 154031022 | frameshift variant | C/- | delins | 7 | |||
rs387907329 | 0.827 | 0.200 | X | 49075573 | stop gained | G/A;T | snv | 5.5E-06 | 10 | ||
rs587776935 | 0.827 | 0.120 | 1 | 243505296 | missense variant | G/A | snv | 7 |