Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs200748388 | 7 | 87601021 | 5 prime UTR variant | G/A | snv | 7.0E-06 | 1 | ||||
rs745614189 | 7 | 87549387 | synonymous variant | G/A | snv | 4.0E-06 | 1 | ||||
rs1458320839 | 2 | 219218640 | missense variant | C/A;T | snv | 1 | |||||
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 56 | ||
rs2231137 | 0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 | 13 | |
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs2244613 | 0.882 | 0.120 | 16 | 55810697 | intron variant | G/A;T | snv | 8.0E-06; 0.73 | 4 | ||
rs10474485 | 1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 | 2 | ||
rs3758581 | 0.925 | 0.040 | 10 | 94842866 | missense variant | A/G | snv | 0.95 | 3 | ||
rs1057910 | 0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 | 12 | ||
rs2032592 | 0.851 | 0.160 | Y | 12919473 | 3 prime UTR variant | A/G | snv | 1.6E-04 | 5 | ||
rs1801265 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 13 | ||
rs67376798 | 0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 | 9 | |
rs7548189 | 0.882 | 0.160 | 1 | 97402157 | intron variant | C/A | snv | 0.19 | 4 | ||
rs17376848 | 0.925 | 0.040 | 1 | 97450068 | synonymous variant | A/G | snv | 5.1E-02 | 4.3E-02 | 3 | |
rs56038477 | 1 | 97573863 | synonymous variant | C/T | snv | 1.4E-02 | 1.3E-02 | 1 | |||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs2227983 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 31 | ||
rs142110773 | 0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 13 | |
rs35106244 | 19 | 48700572 | intron variant | C/T | snv | 0.29 | 2 | ||||
rs601338 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 19 |