Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs689466 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 33 | ||
rs5277 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 9 | ||
rs689470 | 0.776 | 0.240 | 1 | 186671926 | 3 prime UTR variant | G/A;C;T | snv | 9 | |||
rs748500299 | 0.790 | 0.200 | 1 | 186675960 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 8 | ||
rs689465 | 0.851 | 0.200 | 1 | 186681714 | upstream gene variant | T/C | snv | 0.14 | 7 | ||
rs2745557 | 0.807 | 0.200 | 1 | 186680089 | intron variant | A/G | snv | 0.83 | 6 | ||
rs5273 | 0.827 | 0.080 | 1 | 186674636 | missense variant | A/C;G | snv | 4.0E-06; 7.6E-03 | 1.4E-02 | 6 | |
rs4648308 | 0.851 | 0.160 | 1 | 186671485 | downstream gene variant | C/T | snv | 0.27 | 5 | ||
rs2066826 | 0.851 | 0.160 | 1 | 186676795 | intron variant | C/T | snv | 0.14 | 0.19 | 4 | |
rs200479241 | 0.882 | 0.080 | 1 | 186676073 | missense variant | T/C | snv | 2.1E-05 | 3 | ||
rs2206593 | 0.925 | 0.080 | 1 | 186673297 | 3 prime UTR variant | A/G | snv | 0.95 | 3 | ||
rs4648298 | 0.882 | 0.120 | 1 | 186672550 | 3 prime UTR variant | T/C | snv | 1.7E-02 | 3 | ||
rs3218625 | 0.925 | 0.240 | 1 | 186674409 | missense variant | C/T | snv | 1.6E-03 | 5.0E-04 | 2 | |
rs5278 | 0.925 | 0.080 | 1 | 186676537 | synonymous variant | A/G | snv | 4.8E-03 | 1.8E-02 | 2 | |
rs5279 | 0.925 | 0.080 | 1 | 186675946 | missense variant | A/C;G;T | snv | 4.0E-06; 4.5E-03; 8.0E-06 | 2 | ||
rs373745396 | 0.925 | 0.080 | 1 | 186679322 | missense variant | G/A;C;T | snv | 4.0E-06; 8.0E-06; 4.0E-06 | 2 | ||
rs13306035 | 1.000 | 0.080 | 1 | 186672715 | 3 prime UTR variant | A/G | snv | 1 | |||
rs13306038 | 1.000 | 0.080 | 1 | 186671995 | 3 prime UTR variant | A/T | snv | 4.6E-03 | 1 | ||
rs201931599 | 1.000 | 0.080 | 1 | 186671994 | 3 prime UTR variant | T/A | snv | 1.7E-02 | 1 | ||
rs367650109 | 1.000 | 0.080 | 1 | 186675959 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 1 | |
rs377655174 | 1.000 | 0.080 | 1 | 186678374 | missense variant | G/A | snv | 8.1E-06 | 1 | ||
rs4648306 | 1.000 | 0.080 | 1 | 186671572 | downstream gene variant | C/T | snv | 0.12 | 1 | ||
rs4648310 | 1 | 186671393 | downstream gene variant | T/C;G | snv | 1 |