Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs4240807 | 0.851 | 0.160 | 16 | 85951755 | downstream gene variant | A/C | snv | 0.76 | 4 | ||
rs4459895 | 0.827 | 0.160 | 3 | 188236626 | intron variant | A/C | snv | 0.88 | 5 | ||
rs1057519981 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 22 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs760043106 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 32 | |||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1057519983 | 0.724 | 0.360 | 17 | 7673797 | missense variant | A/G | snv | 16 | |||
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs12638862 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 10 | ||
rs12711846 | 0.851 | 0.160 | 2 | 111098716 | non coding transcript exon variant | A/G | snv | 0.26 | 4 | ||
rs13069553 | 0.851 | 0.200 | 3 | 169790484 | upstream gene variant | A/G | snv | 0.21 | 4 | ||
rs2456449 | 0.827 | 0.280 | 8 | 127180736 | intron variant | A/G | snv | 0.30 | 5 | ||
rs2720680 | 0.851 | 0.160 | 8 | 128102971 | intron variant | A/G | snv | 0.33 | 4 | ||
rs73005220 | 0.851 | 0.160 | 19 | 16161878 | intron variant | A/G | snv | 3.9E-02 | 4 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs11715604 | 0.851 | 0.160 | 3 | 136870707 | intron variant | A/G;T | snv | 4 | |||
rs872071 | 0.742 | 0.360 | 6 | 411064 | 3 prime UTR variant | A/G;T | snv | 13 | |||
rs104894226 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 29 | |||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 48 | |||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 57 | ||
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 25 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 |