Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs864309483 | 0.851 | 0.080 | 3 | 123352464 | missense variant | G/A | snv | 9 | |||
rs628031 | 0.807 | 0.280 | 6 | 160139813 | missense variant | A/C;G | snv | 5.3E-05; 0.63 | 8 | ||
rs35801418 | 0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv | 7 | |||
rs1799836 | 0.790 | 0.160 | X | 43768752 | intron variant | T/A;C | snv | 0.43 | 7 | ||
rs28363170 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 7 | ||
rs56984562 | 0.827 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv | 6 | |||
rs165815 | 0.882 | 0.120 | 22 | 19971950 | missense variant | C/T | snv | 0.75 | 0.72 | 5 | |
rs4704559 | 0.925 | 0.080 | 5 | 79517086 | upstream gene variant | A/G | snv | 0.15 | 4 | ||
rs1563945076 | 0.925 | 0.160 | 9 | 32974556 | frameshift variant | A/- | del | 4 | |||
rs1064794533 | 0.882 | 0.080 | 16 | 56336846 | missense variant | G/A | snv | 4 | |||
rs393795 | 0.851 | 0.160 | 5 | 1428399 | intron variant | G/T | snv | 0.28 | 4 | ||
rs752513525 | 0.882 | 0.120 | 19 | 19526257 | missense variant | G/A;T | snv | 2.4E-05 | 3 | ||
rs387907128 | 0.925 | 0.080 | 16 | 29813850 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs2293054 | 0.925 | 0.080 | 12 | 117263909 | synonymous variant | A/G;T | snv | 0.69; 4.0E-06 | 2 | ||
rs1267306614 | 1.000 | 0.080 | 3 | 114171850 | missense variant | C/G | snv | 1 | |||
rs1345423 | 1.000 | 0.080 | 16 | 10154207 | intron variant | G/A;C;T | snv | 1 | |||
rs4911871 | 1.000 | 0.080 | X | 114762580 | intron variant | A/G | snv | 0.15 | 1 |