Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs347685 | 1.000 | 0.080 | 3 | 142088295 | intron variant | C/A | snv | 0.74 | 4 | ||
rs1066621 | 1.000 | 0.080 | 3 | 191708066 | regulatory region variant | C/T | snv | 0.39 | 2 | ||
rs12634709 | 1.000 | 0.080 | 3 | 59603270 | intron variant | G/T | snv | 0.23 | 2 | ||
rs9846911 | 3 | 187500548 | intergenic variant | A/G | snv | 0.47 | 2 | ||||
rs12721226 | 3 | 148741522 | missense variant | G/A | snv | 6.3E-04 | 1.6E-04 | 1 | |||
rs375411329 | 3 | 12379746 | missense variant | A/G | snv | 7.0E-06 | 1 | ||||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs1126616 | 0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 | 8 | |
rs734553 | 0.851 | 0.240 | 4 | 9921380 | intron variant | G/A;T | snv | 7 | |||
rs17319721 | 0.925 | 0.080 | 4 | 76447694 | intron variant | G/A | snv | 0.34 | 5 | ||
rs45539933 | 0.882 | 0.280 | 4 | 140567914 | missense variant | C/T | snv | 8.7E-02 | 7.7E-02 | 5 | |
rs1057518797 | 4 | 88008090 | frameshift variant | CCCGGGCA/TAGGACG | delins | 3 | |||||
rs2074379 | 1.000 | 4 | 112431743 | missense variant | G/A | snv | 0.62 | 0.65 | 3 | ||
rs2074388 | 1.000 | 4 | 112431241 | missense variant | G/A | snv | 0.62 | 0.65 | 3 | ||
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 | |||
rs57802047 | 1.000 | 0.080 | 4 | 20645949 | intergenic variant | C/T | snv | 0.11 | 2 | ||
rs7660268 | 1.000 | 0.080 | 4 | 14348076 | intergenic variant | C/A | snv | 7.4E-02 | 2 | ||
rs78351985 | 4 | 99655532 | upstream gene variant | A/G | snv | 3.2E-04 | 1 | ||||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs11739136 | 0.827 | 0.200 | 5 | 170383792 | missense variant | C/T | snv | 9.9E-02 | 8.7E-02 | 10 | |
rs373863828 | 0.851 | 0.160 | 5 | 173108771 | missense variant | G/A | snv | 4.0E-05 | 8.4E-05 | 6 | |
rs6420094 | 1.000 | 0.080 | 5 | 177390635 | intron variant | A/G | snv | 0.29 | 5 | ||
rs11959928 | 1.000 | 0.080 | 5 | 39397030 | intron variant | T/A | snv | 0.39 | 4 |