Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28934907 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 30 | |||
rs113994097 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 22 | |
rs80356616 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 19 | |||
rs61749721 | 0.732 | 0.200 | X | 154031065 | stop gained | G/A | snv | 17 | |||
rs80356624 | 0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv | 16 | |||
rs1562927768 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 15 | |||
rs387907281 | 0.752 | 0.280 | 19 | 41970284 | missense variant | C/T | snv | 13 | |||
rs796052676 | 0.807 | 0.200 | 8 | 132180246 | missense variant | G/A | snv | 10 | |||
rs1285524167 | 0.807 | 0.280 | 11 | 17475004 | missense variant | C/T | snv | 8.0E-06 | 8 | ||
rs587780455 | 0.827 | 0.160 | 12 | 51807116 | missense variant | A/G | snv | 7 | |||
rs730882242 | 0.807 | 0.280 | 5 | 141573518 | stop gained | G/A | snv | 7 | |||
rs193929337 | 0.827 | 0.160 | 11 | 17387937 | missense variant | T/C | snv | 6 | |||
rs374319146 | 0.851 | 0.080 | 4 | 106194717 | splice donor variant | C/A;T | snv | 4.3E-06; 8.7E-06 | 6 | ||
rs587776954 | 0.827 | 0.320 | 12 | 6944122 | start lost | A/G | snv | 3.2E-05 | 2.1E-05 | 6 | |
rs730882203 | 0.851 | 0.080 | 1 | 46510953 | missense variant | C/T | snv | 6 | |||
rs730882210 | 0.827 | 0.280 | 20 | 45304356 | missense variant | C/G | snv | 6 | |||
rs145999922 | 0.882 | 0.040 | 2 | 227699378 | missense variant | A/G | snv | 4.4E-05 | 4.2E-05 | 5 | |
rs193929358 | 0.851 | 0.240 | 11 | 17387091 | missense variant | C/T | snv | 5 | |||
rs193929353 | 0.882 | 0.120 | 11 | 17387206 | missense variant | T/C;G | snv | 4 | |||
rs730882212 | 0.851 | 0.120 | 2 | 130194199 | missense variant | G/A | snv | 7.2E-05; 4.0E-06 | 4.2E-05 | 4 | |
rs730882223 | 0.851 | 0.120 | 1 | 184054736 | missense variant | T/G | snv | 4 | |||
rs192669225 | 0.925 | 0.040 | 1 | 109628692 | missense variant | G/A | snv | 3 | |||
rs200345816 | 0.925 | 0.040 | 7 | 102283048 | missense variant | C/G;T | snv | 6.0E-05; 4.0E-06 | 3 | ||
rs730882200 | 0.882 | 0.040 | 20 | 48953604 | frameshift variant | -/C | delins | 3 | |||
rs730882222 | 0.925 | 0.040 | 17 | 6707026 | splice donor variant | A/C | snv | 3 |