Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121908188 | 0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 | 25 | ||
rs199564797 | 0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 25 | |
rs745886248 | 0.742 | 0.360 | 1 | 25811710 | missense variant | G/A;C;T | snv | 4.3E-06; 4.3E-06; 4.3E-06 | 25 | ||
rs121964852 | 0.851 | 0.080 | 1 | 154172971 | missense variant | C/T | snv | 3 | |||
rs121964854 | 0.882 | 0.080 | 1 | 154172972 | missense variant | G/A;C | snv | 3 | |||
rs121964853 | 0.925 | 0.080 | 1 | 154176194 | missense variant | G/C;T | snv | 2 | |||
rs1553248515 | 0.925 | 0.080 | 1 | 154170417 | missense variant | G/T | snv | 2 | |||
rs367543048 | 0.925 | 0.080 | 1 | 229433100 | stop gained | C/A;T | snv | 4.0E-06 | 2 | ||
rs367543049 | 0.925 | 0.080 | 1 | 229432867 | missense variant | C/T | snv | 2 | |||
rs121909529 | 1.000 | 0.080 | 1 | 229431830 | missense variant | T/A | snv | 1 | |||
rs121909530 | 1.000 | 0.080 | 1 | 229432134 | missense variant | A/G | snv | 1 | |||
rs121909531 | 1.000 | 0.080 | 1 | 229431633 | missense variant | G/A | snv | 1 | |||
rs1553198464 | 1.000 | 0.080 | 1 | 25800218 | start lost | AGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCC/- | delins | 1 | |||
rs1553251644 | 1.000 | 0.080 | 1 | 154191976 | missense variant | C/G | snv | 1 | |||
rs199474711 | 1.000 | 0.080 | 1 | 154192008 | missense variant | G/A | snv | 1 | |||
rs199474713 | 1.000 | 0.080 | 1 | 154176220 | missense variant | C/G | snv | 1 | |||
rs199474715 | 1.000 | 0.080 | 1 | 154172969 | missense variant | T/C | snv | 1 | |||
rs199474717 | 1.000 | 0.080 | 1 | 154170454 | missense variant | C/T | snv | 1 | |||
rs199474718 | 1.000 | 0.080 | 1 | 154170442 | missense variant | T/C | snv | 1 | |||
rs367543050 | 1.000 | 0.080 | 1 | 229432181 | missense variant | C/G | snv | 1 | |||
rs367543051 | 0.925 | 0.080 | 1 | 229432075 | missense variant | C/T | snv | 1 | |||
rs797045950 | 1.000 | 0.080 | 1 | 25809104 | protein altering variant | -/CCT | delins | 1 | |||
rs104894129 | 0.851 | 0.120 | 9 | 35685672 | missense variant | C/T | snv | 3 | |||
rs3218716 | 0.716 | 0.280 | 14 | 23425316 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 17 | ||
rs121913628 | 0.763 | 0.160 | 14 | 23424059 | missense variant | C/G;T | snv | 10 |