Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs499765 | 0.925 | 0.160 | 19 | 48763133 | downstream gene variant | C/G | snv | 0.45 | 2 | ||
rs994411260 | 0.925 | 0.160 | 19 | 10194877 | missense variant | G/C | snv | 2 | |||
rs838136 | 1.000 | 0.120 | 19 | 48753131 | intron variant | T/C | snv | 0.41 | 1 | ||
rs1942872 | 0.925 | 0.160 | 18 | 60201132 | downstream gene variant | C/T | snv | 0.21 | 2 | ||
rs2874116 | 0.925 | 0.160 | 18 | 58792367 | regulatory region variant | G/A | snv | 0.36 | 2 | ||
rs488846 | 0.925 | 0.160 | 18 | 54261400 | intergenic variant | T/C | snv | 0.26 | 2 | ||
rs9958800 | 0.925 | 0.160 | 18 | 62773567 | intron variant | T/A | snv | 0.25 | 2 | ||
rs9966483 | 0.925 | 0.160 | 18 | 67783109 | intron variant | G/A;T | snv | 2 | |||
rs2346061 | 1.000 | 0.120 | 18 | 74533297 | upstream gene variant | C/A | snv | 0.71 | 1 | ||
rs7577 | 1.000 | 0.120 | 18 | 74521112 | 3 prime UTR variant | T/A;C;G | snv | 0.21 | 1 | ||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs2670660 | 0.708 | 0.400 | 17 | 5615686 | intron variant | A/G | snv | 0.41 | 15 | ||
rs1800764 | 0.790 | 0.320 | 17 | 63473168 | upstream gene variant | C/G;T | snv | 10 | |||
rs3917887 | 0.776 | 0.240 | 17 | 34255979 | non coding transcript exon variant | AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC | delins | 0.33 | 8 | ||
rs1056534 | 0.882 | 0.200 | 17 | 82750725 | synonymous variant | C/A;G;T | snv | 0.62 | 5 | ||
rs7211818 | 0.827 | 0.200 | 17 | 80715103 | intron variant | A/G | snv | 0.23 | 5 | ||
rs7212142 | 0.827 | 0.200 | 17 | 80650141 | intron variant | G/A | snv | 0.50 | 5 | ||
rs1137933 | 0.882 | 0.160 | 17 | 27778906 | synonymous variant | G/A | snv | 0.20 | 0.21 | 4 | |
rs11651270 | 0.882 | 0.240 | 17 | 5521757 | missense variant | T/C | snv | 0.45 | 0.47 | 4 | |
rs2779248 | 0.882 | 0.160 | 17 | 27800806 | intron variant | T/C | snv | 0.39 | 4 | ||
rs6504649 | 0.882 | 0.280 | 17 | 50360095 | missense variant | C/G;T | snv | 0.33; 3.2E-05 | 4 | ||
rs12449782 | 0.925 | 0.200 | 17 | 63498888 | intron variant | G/A | snv | 0.41 | 3 | ||
rs4311 | 0.882 | 0.200 | 17 | 63483402 | intron variant | T/C | snv | 0.60 | 3 | ||
rs7222331 | 0.925 | 0.120 | 17 | 40995605 | upstream gene variant | C/T | snv | 0.24 | 3 |