Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 34 | |
rs3123543 | 1 | 212617344 | intron variant | T/A;C | snv | 13 | |||||
rs2814778 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 11 | ||
rs12239046 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 7 | ||||
rs34599082 | 1 | 159205704 | missense variant | C/T | snv | 1.1E-02 | 9.9E-03 | 7 | |||
rs12075 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 6 | |
rs201950044 | 1 | 161639782 | intergenic variant | G/T | snv | 5 | |||||
rs2208568 | 1 | 235926855 | intergenic variant | T/A;C;G | snv | 5 | |||||
rs3917914 | 1 | 36482287 | intron variant | G/A;T | snv | 5 | |||||
rs3917932 | 1 | 36478315 | intron variant | C/G | snv | 0.59 | 5 | ||||
rs663045 | 1 | 108200437 | 5 prime UTR variant | G/C | snv | 0.55 | 5 | ||||
rs7550207 | 1 | 159205095 | intron variant | T/C | snv | 0.19 | 5 | ||||
rs9436747 | 1 | 65445924 | intron variant | T/C | snv | 0.56 | 5 | ||||
rs11204682 | 1 | 150623061 | intron variant | G/A;T | snv | 4 | |||||
rs12752838 | 1 | 8853597 | upstream gene variant | A/G | snv | 0.54 | 4 | ||||
rs17592479 | 1 | 226986191 | intron variant | T/A | snv | 0.41 | 4 | ||||
rs301807 | 0.925 | 0.080 | 1 | 8424763 | intron variant | A/G;T | snv | 4 | |||
rs34293785 | 1 | 65671509 | intergenic variant | T/C | snv | 4 | |||||
rs56232812 | 1 | 27859995 | intergenic variant | A/C | snv | 0.11 | 4 | ||||
rs114269697 | 1.000 | 0.040 | 1 | 64848529 | intron variant | C/A | snv | 7.3E-03 | 3 | ||
rs796415138 | 1 | 45860202 | intron variant | CACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACACA | delins | 0.42 | 3 | ||||
rs1036332 | 1 | 199043349 | intron variant | A/C | snv | 0.70 | 2 | ||||
rs111759324 | 1 | 101186966 | upstream gene variant | C/T | snv | 0.11 | 2 | ||||
rs12408934 | 1 | 64957764 | intron variant | G/A | snv | 6.1E-02 | 2 | ||||
rs146091102 | 1 | 26795439 | intron variant | G/A | snv | 2.2E-02 | 2 |