Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1559470315 | 0.732 | 0.320 | 3 | 41227287 | protein altering variant | CCACAAGCAG/T | delins | 26 | |||
rs121913400 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 17 | |||
rs28931588 | 0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv | 14 | |||
rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 13 | |||
rs28931589 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 13 | |||
rs1057519886 | 0.752 | 0.240 | 3 | 41224609 | missense variant | T/A;C;G | snv | 11 | |||
rs121913228 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 11 | |||
rs121913396 | 0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv | 11 | |||
rs121913407 | 0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv | 10 | |||
rs121913412 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 10 | |||
rs775104326 | 0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 | 10 | ||
rs121913399 | 0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv | 10 | |||
rs121913413 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 9 | |||
rs121913409 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 9 | |||
rs1553630279 | 0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv | 7 | |||
rs1553632357 | 0.882 | 0.120 | 3 | 41236421 | stop gained | G/T | snv | 5 | |||
rs1553631770 | 1.000 | 3 | 41233398 | missense variant | A/T | snv | 4 | ||||
rs797044875 | 1.000 | 3 | 41235763 | missense variant | G/A | snv | 3 | ||||
rs1553631783 | 3 | 41233416 | frameshift variant | G/- | delins | 2 | |||||
rs1057519837 | 1.000 | 0.040 | 3 | 41224631 | missense variant | C/G;T | snv | 2 | |||
rs1064796453 | 3 | 41235799 | stop gained | C/A;T | snv | 2 | |||||
rs778624338 | 1.000 | 0.080 | 3 | 41227270 | stop gained | C/A;T | snv | 2.0E-05 | 7.0E-06 | 2 | |
rs1057519836 | 3 | 41224630 | missense variant | A/C;G;T | snv | 2 | |||||
rs1057519380 | 0.925 | 0.080 | 3 | 41239137 | stop gained | -/TAGCTATCGTTCTTTT | delins | 2 | |||
rs1057519379 | 0.882 | 0.080 | 3 | 41233777 | frameshift variant | -/C | ins | 2 |