Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11795613 | 0.925 | 0.120 | X | 71147478 | intron variant | A/G | snv | 2 | |||
rs1186689 | 1.000 | 0.040 | 1 | 160053263 | intron variant | G/T | snv | 0.49 | 1 | ||
rs12037377 | 1.000 | 0.040 | 1 | 246551218 | missense variant | G/A | snv | 3.2E-03 | 1.6E-03 | 2 | |
rs1206846668 | 0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 | 16 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs121908445 | 0.925 | 0.040 | 7 | 148147542 | missense variant | T/C | snv | 3.3E-04 | 1.7E-04 | 2 | |
rs121909219 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 25 | |||
rs121909224 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 41 | ||
rs121909231 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 32 | |||
rs121912562 | 0.925 | 0.160 | 4 | 148435252 | stop gained | G/A;C | snv | 4.0E-06 | 2 | ||
rs121917893 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 10 | |||
rs121918799 | 0.752 | 0.120 | 2 | 166015636 | missense variant | G/C | snv | 1.7E-03 | 1.6E-03 | 14 | |
rs1229030855 | 0.925 | 0.080 | 12 | 56428321 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs12531289 | 1.000 | 0.040 | 7 | 114600061 | intron variant | T/A | snv | 0.73 | 2 | ||
rs12539160 | 1.000 | 0.040 | 7 | 73606109 | splice region variant | C/A;T | snv | 2.8E-02 | 3.0E-02 | 1 | |
rs12603582 | 1.000 | 0.040 | 17 | 47300211 | intron variant | G/T | snv | 0.18 | 2 | ||
rs1275980031 | 1.000 | 0.040 | 7 | 103540259 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs1276388879 | 1.000 | 0.040 | 1 | 151405647 | missense variant | A/C;G | snv | 1 | |||
rs1276905604 | 1.000 | 0.040 | X | 14581319 | missense variant | A/G | snv | 9.5E-06 | 1 | ||
rs12826786 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 26 | ||
rs13000344 | 0.925 | 0.040 | 2 | 63062599 | downstream gene variant | T/G | snv | 0.11 | 2 | ||
rs13294439 | 1.000 | 0.040 | 9 | 23358877 | intron variant | A/C | snv | 0.32 | 2 | ||
rs1331320684 | 1.000 | 0.040 | 3 | 2988415 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs13316193 | 0.882 | 0.040 | 3 | 8761057 | intron variant | T/C | snv | 0.45 | 4 | ||
rs1336089966 | 1.000 | 0.040 | 22 | 50674675 | missense variant | C/T | snv | 1 |