Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4975616 | 0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 | 12 | ||
rs12296850 | 0.925 | 0.080 | 12 | 100426307 | downstream gene variant | A/G | snv | 8.7E-02 | 3 | ||
rs7309332 | 1.000 | 0.040 | 12 | 7938243 | upstream gene variant | T/C | snv | 0.59 | 3 | ||
rs10503380 | 1.000 | 0.080 | 8 | 9552985 | upstream gene variant | C/T | snv | 0.25 | 2 | ||
rs11991621 | 1.000 | 0.080 | 8 | 9549072 | intergenic variant | C/T | snv | 0.18 | 2 | ||
rs6601328 | 1.000 | 0.080 | 8 | 9545693 | regulatory region variant | G/A;C | snv | 2 | |||
rs750749 | 6 | 14141866 | downstream gene variant | T/C | snv | 0.27 | 1 | ||||
rs9370729 | 6 | 14138061 | downstream gene variant | C/T | snv | 0.44 | 1 | ||||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1289543302 | 0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv | 12 | |||
rs1164376164 | 0.851 | 0.200 | 7 | 87601024 | 5 prime UTR variant | A/G | snv | 6 | |||
rs3114020 | 0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 | 5 | ||
rs505922 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 34 | |||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs1057519696 | 1.000 | 0.040 | 2 | 29214054 | missense variant | C/T | snv | 5 | |||
rs863225307 | 5 | 112819077 | stop gained | C/T | snv | 1 | |||||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs17757541 | 0.827 | 0.240 | 18 | 63212453 | intron variant | C/G;T | snv | 7 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs121913355 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 42 | ||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 29 | |||
rs10505477 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 31 | ||
rs12613347 | 2 | 201190589 | intron variant | C/T | snv | 0.19 | 1 | ||||
rs3760396 | 0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 | 13 |