Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs62170897 | 1.000 | 0.040 | 2 | 77031414 | intron variant | A/G | snv | 0.12 | 1 | ||
rs6439886 | 1.000 | 0.040 | 3 | 139963653 | intron variant | A/G | snv | 0.14 | 1 | ||
rs73989024 | 1.000 | 0.040 | 17 | 49932105 | intron variant | A/G | snv | 5.5E-02 | 1 | ||
rs75316710 | 1.000 | 0.040 | 3 | 10508052 | intron variant | A/G | snv | 2.9E-02 | 1 | ||
rs78277363 | 1.000 | 0.040 | 5 | 7627129 | intron variant | A/G | snv | 1.7E-02 | 1 | ||
rs799979 | 1.000 | 0.040 | 7 | 80415882 | intron variant | A/G | snv | 2.7E-02 | 1 | ||
rs53576 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 42 | |||
rs4673 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 32 | ||
rs63751287 | 0.742 | 0.120 | 14 | 73192792 | missense variant | A/G;T | snv | 13 | |||
rs6656401 | 0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv | 8 | |||
rs2251214 | 0.827 | 0.040 | 12 | 79430071 | intron variant | A/G;T | snv | 7 | |||
rs1256030 | 0.827 | 0.240 | 14 | 64280452 | intron variant | A/G;T | snv | 6 | |||
rs544706237 | 0.851 | 0.120 | 2 | 79121649 | missense variant | A/G;T | snv | 8.0E-06; 5.2E-05 | 5 | ||
rs728524 | 1.000 | 0.040 | 6 | 151982302 | intron variant | A/G;T | snv | 1 | |||
rs63750215 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 19 | |||
rs184148048 | 1.000 | 0.040 | 2 | 66212157 | intergenic variant | A/T | snv | 1.3E-02 | 1 | ||
rs41359445 | 1.000 | 0.040 | 4 | 23792721 | 3 prime UTR variant | A/T | snv | 1.3E-02 | 1 | ||
rs201226244 | 1.000 | 0.040 | 22 | 19299874 | intron variant | AA/-;AAA | delins | 1 | |||
rs201958930 | 1.000 | 0.040 | 4 | 58871307 | intron variant | AAA/-;AA;AAAA | delins | 1 | |||
rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
rs4925 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 28 | |
rs3865444 | 0.851 | 0.160 | 19 | 51224706 | upstream gene variant | C/A | snv | 0.25 | 8 | ||
rs1554107200 | 0.851 | 0.120 | 5 | 140679127 | missense variant | C/A | snv | 4 | |||
rs117070989 | 1.000 | 0.040 | 6 | 137490510 | downstream gene variant | C/A | snv | 8.3E-03 | 1 | ||
rs117605016 | 1.000 | 0.040 | 12 | 129129840 | intron variant | C/A | snv | 9.9E-03 | 1 |