Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28939068 | 0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv | 9 | |||
rs175080 | 0.776 | 0.240 | 14 | 75047125 | missense variant | G/A | snv | 0.40 | 0.43 | 9 | |
rs2292596 | 0.827 | 0.240 | 5 | 422840 | missense variant | C/G;T | snv | 0.38; 4.0E-06 | 7 | ||
rs2477686 | 0.807 | 0.040 | 1 | 2461209 | intron variant | G/C | snv | 0.64 | 7 | ||
rs7354779 | 0.827 | 0.200 | 21 | 44250887 | missense variant | T/C | snv | 0.21 | 6 | ||
rs200750564 | 0.827 | 0.160 | 2 | 176094518 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 6 | |
rs1061581 | 0.827 | 0.200 | 6 | 31816809 | synonymous variant | G/A | snv | 6 | |||
rs2075789 | 0.882 | 0.120 | 6 | 31740551 | missense variant | C/T | snv | 0.13 | 9.1E-02 | 6 | |
rs55763075 | 0.827 | 0.120 | 1 | 11790377 | 3 prime UTR variant | C/T | snv | 2.1E-05 | 6 | ||
rs121918346 | 0.882 | 0.040 | 3 | 16598169 | missense variant | T/C;G | snv | 8.0E-06 | 5 | ||
rs6080550 | 0.851 | 0.040 | 20 | 1778944 | intron variant | C/G;T | snv | 9.6E-02 | 5 | ||
rs10842262 | 0.851 | 0.040 | 12 | 24031610 | intron variant | G/C | snv | 0.43 | 5 | ||
rs12097821 | 0.882 | 0.040 | 1 | 106793679 | regulatory region variant | G/A;T | snv | 4 | |||
rs116298211 | 0.882 | 0.160 | 14 | 96486941 | missense variant | T/C;G | snv | 1.5E-03 | 1.4E-03 | 4 | |
rs184752888 | 0.882 | 0.120 | 6 | 32977847 | missense variant | G/A | snv | 4 | |||
rs17115149 | 0.882 | 0.160 | 10 | 102837961 | upstream gene variant | G/A;T | snv | 4 | |||
rs6523 | 0.882 | 0.200 | 19 | 17821329 | missense variant | T/C | snv | 0.65 | 0.70 | 4 | |
rs2631367 | 0.925 | 0.120 | 5 | 132369766 | 5 prime UTR variant | C/G | snv | 0.59 | 4 | ||
rs121965059 | 0.925 | 0.080 | 10 | 124403892 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 4 | |
rs1569167515 | 0.925 | 0.200 | 22 | 37973567 | inframe deletion | CTGGGGTCAGAGATG/- | delins | 4 | |||
rs2287498 | 0.882 | 0.120 | 17 | 7689242 | synonymous variant | C/T | snv | 0.13 | 0.14 | 4 | |
rs724078 | 0.925 | 0.040 | 6 | 29521271 | intergenic variant | G/A | snv | 0.41 | 3 | ||
rs139524801 | 0.925 | 0.160 | X | 67643283 | missense variant | G/A;T | snv | 1.8E-04 | 3 | ||
rs141425171 | 1.000 | 0.160 | X | 67717574 | missense variant | A/G;T | snv | 2.2E-05; 5.5E-06 | 3 | ||
rs2070565 | 0.925 | 0.080 | 21 | 44261270 | splice region variant | T/C | snv | 0.70 | 0.75 | 3 |