Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121918243 | 0.882 | 0.160 | 1 | 45508848 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 | 5 | |
rs762425351 | 0.925 | 0.200 | 9 | 129095573 | missense variant | C/T | snv | 1.2E-04 | 7.7E-05 | 7 | |
rs148234606 | 0.925 | 8 | 144360604 | missense variant | T/C | snv | 7.0E-05 | 7.7E-05 | 4 | ||
rs137852832 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 17 | |
rs587784543 | 1.000 | 19 | 36083171 | missense variant | G/A | snv | 5.3E-05 | 6.3E-05 | 2 | ||
rs149830411 | 0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 | 15 | |
rs796943858 | 0.882 | 0.080 | 21 | 43774280 | frameshift variant | GA/- | delins | 2.0E-05 | 5.6E-05 | 4 | |
rs746882521 | 0.925 | 18 | 62143337 | missense variant | A/C | snv | 3.0E-05 | 4.9E-05 | 4 | ||
rs754129466 | 1.000 | 20 | 32436955 | stop gained | C/G;T | snv | 1.2E-04 | 4.9E-05 | 2 | ||
rs863225422 | 0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 | 23 | |
rs768933093 | 0.807 | 0.240 | 12 | 76348214 | missense variant | G/A | snv | 4.8E-05 | 4.9E-05 | 10 | |
rs767982852 | 0.882 | 0.080 | 3 | 197694417 | missense variant | T/C | snv | 8.0E-06 | 4.9E-05 | 6 | |
rs768663992 | 0.882 | 0.160 | 16 | 3508407 | missense variant | T/G | snv | 1.3E-05 | 4.2E-05 | 5 | |
rs267608247 | 1.000 | 6 | 42965078 | missense variant | C/A;G;T | snv | 4.2E-05 | 2 | |||
rs139751598 | 0.851 | 0.240 | 17 | 81934931 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 13 | |
rs137852863 | 0.882 | 0.120 | 5 | 61073136 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 5 | |
rs761621368 | 1.000 | 8 | 1780408 | frameshift variant | C/- | delins | 4.0E-06 | 3.5E-05 | 3 | ||
rs754320812 | 0.925 | 8 | 144360427 | missense variant | T/C | snv | 2.4E-05 | 3.5E-05 | 4 | ||
rs747768373 | 6 | 109792665 | splice donor variant | G/A | snv | 8.0E-06 | 2.8E-05 | 1 | |||
rs397515440 | 1.000 | 14 | 31599310 | missense variant | G/T | snv | 2.0E-05 | 2.8E-05 | 3 | ||
rs746480833 | 1.000 | 1 | 154569536 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 | 2.8E-05 | 2 | ||
rs137853105 | 0.882 | 0.160 | 17 | 58206479 | missense variant | A/C | snv | 5.6E-05 | 2.8E-05 | 4 | |
rs61753219 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 64 | |
rs750331613 | 0.882 | 0.040 | 4 | 93515346 | missense variant | C/T | snv | 4.8E-05 | 2.1E-05 | 5 | |
rs1242562412 | 1.000 | 17 | 39687906 | stop gained | C/A | snv | 2.1E-05 | 3 |