Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs761104644 | 19 | 53109614 | missense variant | A/G | snv | 4.0E-06 | 2 | ||||
rs1554208945 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 26 | |||
rs546151500 | 0.925 | 0.080 | 2 | 218643341 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 5 | ||
rs1447313633 | 1.000 | 2 | 218649090 | frameshift variant | TT/- | del | 4 | ||||
rs1559296368 | 1.000 | 2 | 218646330 | frameshift variant | C/- | del | 4 | ||||
rs34757931 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 26 | |
rs1269252748 | 9 | 2641436 | missense variant | C/T | snv | 4 | |||||
rs1553621496 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 53 | |||
rs1555582065 | 0.827 | 0.160 | 17 | 44212851 | missense variant | C/T | snv | 13 | |||
rs748787734 | 0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 | 13 | ||
rs1569151872 | 0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins | 14 | |||
rs139455627 | 0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 | 14 | |
rs1182 | 0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 | 9 | ||
rs1801968 | 0.827 | 0.040 | 9 | 129818622 | missense variant | C/G;T | snv | 0.13; 4.0E-06 | 7 | ||
rs3842225 | 0.882 | 0.120 | 9 | 129813148 | 3 prime UTR variant | C/- | del | 0.16 | 6 | ||
rs727502811 | 0.882 | 0.080 | 9 | 129814108 | missense variant | C/T | snv | 9.1E-05 | 6.3E-05 | 6 | |
rs142909469 | 9 | 129818877 | missense variant | G/A;C | snv | 3.0E-04; 4.0E-06 | 2 | ||||
rs1476648522 | 9 | 129814009 | missense variant | G/A | snv | 8.0E-06; 1.2E-05 | 3.5E-05 | 2 | |||
rs35153737 | 9 | 129813558 | 3 prime UTR variant | C/- | del | 0.14 | 2 | ||||
rs80358233 | 1.000 | 0.080 | 9 | 129814062 | inframe deletion | CTC/- | delins | 4.9E-05 | 2 | ||
rs374512193 | 0.925 | 0.120 | 8 | 42838177 | missense variant | T/C | snv | 5.2E-05 | 5.6E-05 | 4 | |
rs146087734 | 8 | 42843038 | synonymous variant | G/A | snv | 7.6E-05 | 1.5E-04 | 2 | |||
rs121917763 | 0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 5 | |
rs121917762 | 0.925 | 0.040 | 11 | 2165727 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs771610752 | 0.925 | 0.040 | 11 | 2168614 | stop gained | G/A | snv | 6.2E-05 | 2.1E-05 | 3 |