Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs150321966 | 0.925 | 0.040 | 10 | 133366990 | missense variant | G/A | snv | 2.6E-04 | 1.3E-04 | 3 | |
rs754609693 | 0.925 | 0.040 | 10 | 133366967 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 3 | |
rs771610752 | 0.925 | 0.040 | 11 | 2168614 | stop gained | G/A | snv | 6.2E-05 | 2.1E-05 | 3 | |
rs80338892 | 1.000 | 0.040 | 11 | 2167905 | missense variant | C/T | snv | 1.1E-04 | 1.4E-04 | 3 | |
rs45471299 | 1.000 | 0.040 | 11 | 2164339 | missense variant | G/A | snv | 4.0E-05 | 2.1E-05 | 2 | |
rs1554504663 | 0.851 | 0.080 | 8 | 23007627 | missense variant | G/A | snv | 11 | |||
rs11655081 | 0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 | 7 | ||
rs1561515242 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 6 | |||
rs727502811 | 0.882 | 0.080 | 9 | 129814108 | missense variant | C/T | snv | 9.1E-05 | 6.3E-05 | 6 | |
rs1114167290 | 0.882 | 0.080 | 15 | 52340235 | missense variant | G/C | snv | 5 | |||
rs121908683 | 0.925 | 0.080 | 22 | 38115667 | missense variant | G/A | snv | 9.0E-06 | 2.1E-05 | 5 | |
rs397514477 | 0.925 | 0.080 | 19 | 29708415 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 5 | |
rs546151500 | 0.925 | 0.080 | 2 | 218643341 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 5 | ||
rs869025221 | 0.925 | 0.080 | 3 | 25593603 | missense variant | G/C | snv | 5 | |||
rs531630376 | 1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 | 4 | ||
rs796065306 | 1.000 | 0.080 | 3 | 123319754 | missense variant | C/T | snv | 4 | |||
rs864309484 | 1.000 | 0.080 | 3 | 123291354 | missense variant | A/T | snv | 4 | |||
rs137852968 | 0.925 | 0.080 | 20 | 3916955 | stop gained | C/A;T | snv | 4.0E-06; 1.2E-05; 3.6E-05 | 3 | ||
rs550921485 | 1.000 | 0.080 | 1 | 32893848 | missense variant | G/A | snv | 4.9E-04 | 7.0E-05 | 3 | |
rs775863165 | 1.000 | 0.080 | 1 | 32889110 | missense variant | C/A;T | snv | 4.0E-06 | 3 | ||
rs786205675 | 1.000 | 0.080 | 1 | 32889123 | missense variant | C/A | snv | 3 | |||
rs398122845 | 1.000 | 0.080 | X | 41524036 | splice acceptor variant | T/A;C | snv | 2 | |||
rs797045055 | 1.000 | 0.080 | MT | 14597 | missense variant | A/G | snv | 2 | |||
rs80358233 | 1.000 | 0.080 | 9 | 129814062 | inframe deletion | CTC/- | delins | 4.9E-05 | 2 | ||
rs34015634 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 8 |