Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs759549373 | 0.925 | 0.080 | 11 | 103253342 | missense variant | G/A;T | snv | 6.0E-05; 4.0E-06 | 4 | ||
rs181011657 | 0.882 | 0.120 | 11 | 103257719 | stop gained | C/T | snv | 6.8E-05 | 1.4E-04 | 3 | |
rs515726166 | 1.000 | 0.040 | 12 | 109784362 | frameshift variant | TCATTCTTGCCCGGGTC/- | delins | 2 | |||
rs121912637 | 0.851 | 0.160 | 12 | 109784378 | missense variant | G/A;C | snv | 5 | |||
rs267607147 | 0.925 | 0.120 | 12 | 109784379 | missense variant | G/A;C | snv | 2 | |||
rs267607149 | 0.851 | 0.120 | 12 | 109784385 | missense variant | C/T | snv | 5 | |||
rs515726165 | 0.925 | 0.080 | 12 | 109786716 | missense variant | C/T | snv | 2 | |||
rs387906906 | 0.925 | 0.120 | 12 | 109786827 | missense variant | G/A | snv | 3 | |||
rs121912635 | 0.925 | 0.080 | 12 | 109788462 | missense variant | C/A | snv | 2 | |||
rs116571438 | 0.925 | 0.080 | 12 | 109788483 | missense variant | G/A;T | snv | 8.0E-06 | 2 | ||
rs515726164 | 0.925 | 0.080 | 12 | 109792379 | missense variant | C/T | snv | 2 | |||
rs121912633 | 0.790 | 0.240 | 12 | 109792396 | missense variant | C/A;T | snv | 4.0E-06 | 10 | ||
rs515726163 | 0.925 | 0.120 | 12 | 109792401 | missense variant | A/G | snv | 2 | |||
rs515726162 | 0.925 | 0.120 | 12 | 109792403 | missense variant | G/T | snv | 2 | |||
rs121912632 | 0.882 | 0.080 | 12 | 109792407 | missense variant | C/T | snv | 3 | |||
rs515726161 | 0.925 | 0.120 | 12 | 109792664 | missense variant | G/C | snv | 2 | |||
rs267607150 | 0.925 | 0.080 | 12 | 109792671 | missense variant | T/C | snv | 2 | |||
rs515726160 | 0.925 | 0.080 | 12 | 109792678 | missense variant | C/A | snv | 2 | |||
rs515726159 | 0.925 | 0.080 | 12 | 109792689 | missense variant | A/G | snv | 2 | |||
rs77975504 | 0.827 | 0.280 | 12 | 109792695 | missense variant | C/T | snv | 6 | |||
rs515726158 | 0.925 | 0.120 | 12 | 109792702 | missense variant | A/G | snv | 2 | |||
rs515726157 | 1.000 | 0.040 | 12 | 109792704 | missense variant | T/C | snv | 2 | |||
rs387906902 | 0.925 | 0.080 | 12 | 109793560 | missense variant | G/C;T | snv | 4.0E-06 | 3 | ||
rs515726155 | 1.000 | 0.040 | 12 | 109793945 | inframe insertion | -/GGA | delins | 1 | |||
rs515726154 | 1.000 | 0.040 | 12 | 109794406 | inframe deletion | AAG/- | delins | 1 |