Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121918393 | 0.851 | 0.120 | 19 | 44908756 | missense variant | C/A;T | snv | 1.3E-05; 9.0E-05 | 6 | ||
rs2854117 | 0.851 | 0.200 | 11 | 116829426 | upstream gene variant | T/A;C | snv | 6 | |||
rs6782181 | 0.851 | 0.160 | 3 | 138386212 | intron variant | G/A;C | snv | 6 | |||
rs773891125 | 0.827 | 0.120 | 8 | 19955896 | frameshift variant | CT/- | delins | 6 | |||
rs121918394 | 0.882 | 0.080 | 19 | 44908786 | missense variant | A/C;G | snv | 6.5E-06 | 5 | ||
rs1558861 | 11 | 116736721 | regulatory region variant | C/G;T | snv | 5 | |||||
rs267606664 | 0.851 | 0.120 | 19 | 44908730 | missense variant | G/A;C | snv | 1.6E-04; 6.3E-06 | 5 | ||
rs11206517 | 1.000 | 0.120 | 1 | 55060755 | intron variant | T/C;G | snv | 4 | |||
rs201079485 | 0.925 | 0.080 | 11 | 116790940 | stop gained | G/A;T | snv | 8.0E-05; 4.0E-06 | 4 | ||
rs2297322 | 1.000 | 0.040 | 13 | 98723927 | missense variant | C/G;T | snv | 0.22 | 4 | ||
rs4846913 | 1.000 | 0.120 | 1 | 230158968 | intron variant | C/A;T | snv | 4 | |||
rs587777636 | 0.882 | 0.080 | 8 | 143213935 | missense variant | G/A;C | snv | 6.5E-06 | 4 | ||
rs1057156731 | 0.925 | 0.120 | 1 | 156137730 | missense variant | T/A | snv | 3 | |||
rs121909397 | 0.925 | 0.080 | 16 | 869982 | stop gained | G/A;C | snv | 1.6E-04; 4.0E-06 | 3 | ||
rs2454727 | 0.925 | 0.040 | 12 | 122702333 | missense variant | C/T | snv | 3 | |||
rs3829365 | 0.925 | 0.040 | 13 | 37598759 | 5 prime UTR variant | G/A;C | snv | 4.0E-06; 0.11 | 3 | ||
rs59914820 | 0.925 | 0.160 | 1 | 156115000 | missense variant | C/G;T | snv | 3 | |||
rs7314976 | 0.925 | 0.040 | 12 | 122702353 | missense variant | G/A;C | snv | 3.9E-02; 4.5E-06 | 3 | ||
rs774006043 | 0.925 | 0.080 | 11 | 116790561 | missense variant | C/T | snv | 3 | |||
rs972283 | 1.000 | 0.080 | 7 | 130782095 | intergenic variant | A/G;T | snv | 3 | |||
rs1451659304 | 1.000 | 0.040 | 16 | 868990 | missense variant | A/C | snv | 2 | |||
rs2241220 | 1.000 | 0.040 | 12 | 109237224 | synonymous variant | T/A;C;G | snv | 4.0E-06; 0.83 | 2 | ||
rs3825041 | 11 | 116760991 | intron variant | T/A;C | snv | 0.89 | 2 | ||||
rs574363219 | 1.000 | 0.040 | 11 | 116790427 | missense variant | C/T | snv | 1.4E-04 | 2 | ||
rs615563 | 1.000 | 0.120 | 1 | 55060623 | intron variant | A/C;G | snv | 2 |