Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs525549 | 0.882 | 0.120 | 11 | 118487353 | intron variant | T/A | snv | 0.33 | 3 | ||
rs6589664 | 0.882 | 0.120 | 11 | 118534089 | synonymous variant | G/A | snv | 0.30 | 0.27 | 3 | |
rs724159947 | 0.851 | 0.120 | 12 | 11869601 | missense variant | C/T | snv | 6 | |||
rs786205155 | 0.882 | 0.120 | 12 | 11884481 | missense variant | T/C | snv | 4 | |||
rs786205154 | 1.000 | 0.120 | 12 | 11885921 | coding sequence variant | GAACA/- | delins | 3 | |||
rs1573613 | 0.882 | 0.120 | 12 | 11894684 | 3 prime UTR variant | T/C | snv | 0.48 | 3 | ||
rs757874631 | 0.882 | 0.120 | 11 | 119278211 | missense variant | T/A;C | snv | 4 | |||
rs1057519743 | 0.827 | 0.120 | Y | 1196852 | missense variant | A/C | snv | 6 | |||
rs2069762 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 23 | ||
rs7039798 | 0.882 | 0.120 | 9 | 127794947 | intron variant | G/A;C | snv | 3 | |||
rs1544105 | 0.851 | 0.200 | 9 | 127800446 | intron variant | C/T | snv | 0.48 | 4 | ||
rs10106 | 0.851 | 0.200 | 9 | 127813796 | 3 prime UTR variant | T/C | snv | 0.45 | 4 | ||
rs387906517 | 0.827 | 0.120 | 9 | 130862919 | missense variant | G/A | snv | 6 | |||
rs121913448 | 0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv | 5 | |||
rs121913459 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 25 | |||
rs1057519773 | 0.851 | 0.160 | 9 | 130872901 | missense variant | T/A;C;G | snv | 4 | |||
rs121913451 | 0.851 | 0.160 | 9 | 130872903 | missense variant | C/A;G | snv | 4 | |||
rs886285 | 0.925 | 0.120 | 5 | 132429514 | intron variant | T/C | snv | 0.57 | 2 | ||
rs62571442 | 0.882 | 0.120 | 9 | 134850278 | non coding transcript exon variant | G/A;C;T | snv | 0.58; 4.4E-03 | 3 | ||
rs10519612 | 0.882 | 0.120 | 4 | 141732548 | intron variant | A/C | snv | 0.10 | 3 | ||
rs17007695 | 0.851 | 0.120 | 4 | 141788570 | intergenic variant | T/C | snv | 7.7E-02 | 4 | ||
rs72481843 | 0.882 | 0.120 | 5 | 143300685 | splice donor variant | C/G | snv | 3 | |||
rs1427331568 | 0.882 | 0.120 | 5 | 143314010 | missense variant | G/C | snv | 3 |