Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386834263 | 3 | 53673113 | missense variant | G/C | snv | 1 | |||||
rs774679649 | 1 | 159713878 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs763539313 | 12 | 6537702 | missense variant | A/G | snv | 2.0E-05 | 4.9E-05 | 1 | |||
rs142163070 | 8 | 142877100 | missense variant | T/C | snv | 2.0E-04 | 4.5E-04 | 1 | |||
rs2855798 | 11 | 128863066 | intron variant | G/T | snv | 0.21 | 1 | ||||
rs2720574 | 8 | 17578682 | intron variant | C/A;G;T | snv | 1 | |||||
rs4648310 | 1 | 186671393 | downstream gene variant | T/C;G | snv | 1 | |||||
rs1201299 | 3 | 177053096 | intron variant | C/T | snv | 1.7E-02 | 1 | ||||
rs939481814 | 2 | 233767063 | synonymous variant | A/T | snv | 1 | |||||
rs2227999 | 3 | 14158408 | missense variant | C/T | snv | 4.2E-02 | 4.0E-02 | 1 | |||
rs2276020 | 1.000 | 0.120 | 11 | 67490085 | missense variant | C/G;T | snv | 3.4E-02 | 2 | ||
rs17503908 | 1.000 | 0.080 | 11 | 108344670 | intron variant | T/G | snv | 6.7E-02 | 2 | ||
rs142287570 | 1.000 | 6 | 10874335 | missense variant | T/G | snv | 6.6E-04 | 4.9E-04 | 2 | ||
rs371918069 | 1.000 | 6 | 10874372 | missense variant | C/T | snv | 5.6E-05 | 5.6E-05 | 2 | ||
rs146462069 | X | 131278706 | missense variant | T/C;G | snv | 3.8E-05; 9.5E-03 | 2 | ||||
rs6586714 | 1.000 | 8 | 18216433 | intron variant | A/G | snv | 0.84 | 2 | |||
rs370574590 | 1.000 | 0.080 | 1 | 55058628 | missense variant | G/A;T | snv | 3.2E-05; 1.2E-05 | 2 | ||
rs5789 | 1.000 | 0.080 | 9 | 122381694 | missense variant | C/A | snv | 1.8E-02 | 1.8E-02 | 2 | |
rs4952490 | 1.000 | 0.080 | 2 | 40145564 | intron variant | A/G | snv | 0.33 | 2 | ||
rs778826879 | 16 | 30121948 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 | 3 | ||||
rs746497256 | 0.925 | 0.080 | 2 | 177231925 | synonymous variant | A/G | snv | 8.0E-06 | 7.0E-06 | 3 | |
rs10505476 | 8 | 127395871 | intron variant | C/T | snv | 0.38 | 3 | ||||
rs2838958 | 1.000 | 0.080 | 21 | 45528653 | intron variant | G/A | snv | 0.45 | 3 | ||
rs1535989 | 0.925 | 0.080 | 13 | 105370372 | intergenic variant | A/G;T | snv | 4 | |||
rs104894194 | 0.925 | 11 | 67483198 | stop gained | C/T | snv | 2.8E-05 | 2.1E-05 | 4 |