Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2453580 | 17 | 19535008 | non coding transcript exon variant | T/C | snv | 0.37 | 4 | ||||
rs2928148 | 15 | 41109352 | intron variant | G/A | snv | 0.44 | 4 | ||||
rs1057518797 | 4 | 88008090 | frameshift variant | CCCGGGCA/TAGGACG | delins | 3 | |||||
rs12124078 | 1 | 15543404 | intron variant | A/G | snv | 0.32 | 3 | ||||
rs1556446493 | X | 108668328 | missense variant | G/T | snv | 3 | |||||
rs74183647 | 18 | 79396171 | 5 prime UTR variant | G/A;C | snv | 3 | |||||
rs11078903 | 17 | 39475671 | intron variant | G/A;C;T | snv | 2 | |||||
rs2074380 | 4 | 112432155 | missense variant | G/A;T | snv | 8.5E-03; 2.4E-05 | 2 | ||||
rs2074381 | 4 | 112432293 | missense variant | A/G | snv | 8.5E-03 | 5.5E-03 | 2 | |||
rs3093058 | 1 | 159715525 | upstream gene variant | T/A;C;G | snv | 2 | |||||
rs3770636 | 2 | 169346323 | intron variant | T/G | snv | 4.6E-02 | 2 | ||||
rs8101881 | 19 | 32873722 | upstream gene variant | C/T | snv | 0.54 | 2 | ||||
rs9846911 | 3 | 187500548 | intergenic variant | A/G | snv | 0.47 | 2 | ||||
rs9944411 | 17 | 39327346 | intron variant | T/C | snv | 0.32 | 2 | ||||
rs1001030257 | 5 | 58988559 | missense variant | T/C | snv | 2.0E-05 | 2.1E-05 | 1 | |||
rs10068737 | 5 | 118700852 | intergenic variant | T/A;C | snv | 1 | |||||
rs1009840 | 6 | 134225547 | intron variant | G/A | snv | 0.53 | 1 | ||||
rs1156619081 | 11 | 74005787 | missense variant | T/C | snv | 4.0E-06 | 1 | ||||
rs11575542 | 7 | 50463289 | missense variant | C/T | snv | 2.3E-02 | 5.5E-02 | 1 | |||
rs1168357 | 12 | 66356099 | intron variant | T/C | snv | 0.50 | 1 | ||||
rs1232013698 | 6 | 31577208 | missense variant | G/T | snv | 4.1E-06 | 1 | ||||
rs12575381 | 11 | 135033566 | regulatory region variant | G/A | snv | 0.16 | 1 | ||||
rs12721226 | 3 | 148741522 | missense variant | G/A | snv | 6.3E-04 | 1.6E-04 | 1 | |||
rs1290773788 | 5 | 58989799 | missense variant | C/T | snv | 1 | |||||
rs1300938986 | 9 | 122392516 | missense variant | C/T | snv | 4.0E-06 | 1 |