Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12575381 | 11 | 135033566 | regulatory region variant | G/A | snv | 0.16 | 1 | ||||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs12634709 | 1.000 | 0.080 | 3 | 59603270 | intron variant | G/T | snv | 0.23 | 2 | ||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs12721226 | 3 | 148741522 | missense variant | G/A | snv | 6.3E-04 | 1.6E-04 | 1 | |||
rs1290773788 | 5 | 58989799 | missense variant | C/T | snv | 1 | |||||
rs12917707 | 0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 | 11 | ||
rs12922822 | 1.000 | 0.040 | 16 | 20356323 | upstream gene variant | C/A;T | snv | 5 | |||
rs1300938986 | 9 | 122392516 | missense variant | C/T | snv | 4.0E-06 | 1 | ||||
rs1302207706 | 1.000 | 0.080 | 7 | 95316748 | missense variant | C/T | snv | 2 | |||
rs13038305 | 0.925 | 0.080 | 20 | 23629625 | intron variant | C/T | snv | 0.21 | 5 | ||
rs1317947 | 1.000 | 0.080 | 11 | 102617342 | intron variant | G/A | snv | 0.41 | 2 | ||
rs1318525693 | 11 | 74006370 | missense variant | C/G;T | snv | 1 | |||||
rs1346044 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 23 | |
rs13538 | 1.000 | 0.080 | 2 | 73641201 | missense variant | A/G | snv | 0.21 | 0.31 | 5 | |
rs1365501228 | 1.000 | 0.080 | 6 | 43770732 | missense variant | C/T | snv | 1.4E-05 | 2 | ||
rs1367117 | 1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 | 8 | |
rs1394125 | 0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv | 7 | |||
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs1419367513 | 6 | 159762678 | non coding transcript exon variant | G/A | snv | 1 | |||||
rs1423621991 | 11 | 102796745 | missense variant | C/T | snv | 1 | |||||
rs142480126 | 19 | 44907825 | missense variant | G/A | snv | 8.0E-06 | 1 | ||||
rs142864856 | 1.000 | 0.080 | 2 | 151100757 | intergenic variant | CA/-;CACA;CACACA;CACACACA | delins | 2 | |||
rs1455341183 | 5 | 59038945 | missense variant | C/T | snv | 1 | |||||
rs146203232 | 1.000 | 0.080 | 6 | 160100853 | intron variant | C/T | snv | 5.0E-02 | 2 |