Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12436579 | 1.000 | 0.040 | 14 | 60516369 | intron variant | C/A;G | snv | 1 | |||
rs4657473 | 1.000 | 0.040 | 1 | 165717914 | regulatory region variant | C/T | snv | 0.24 | 1 | ||
rs693421 | 1.000 | 0.040 | 1 | 237935790 | downstream gene variant | T/A;G | snv | 1 | |||
rs7098387 | 1.000 | 0.040 | 10 | 20334544 | regulatory region variant | A/C;T | snv | 0.13 | 1 | ||
rs59892895 | 1.000 | 0.040 | 4 | 40995241 | intron variant | T/C | snv | 6.6E-02 | 1 | ||
rs1171063544 | 1.000 | 0.040 | 7 | 151181278 | synonymous variant | G/A | snv | 4.0E-06 | 1 | ||
rs2253592 | 1.000 | 0.040 | 7 | 151181173 | synonymous variant | C/A;G;T | snv | 3.7E-05; 0.40; 1.3E-04 | 1 | ||
rs7916697 | 1.000 | 0.040 | 10 | 68232096 | 5 prime UTR variant | A/G | snv | 0.59 | 1 | ||
rs761875612 | 1.000 | 0.040 | 1 | 161175160 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs146737847 | 1.000 | 0.040 | 14 | 60509783 | missense variant | G/A | snv | 4.0E-03 | 4.2E-03 | 1 | |
rs754829637 | 1.000 | 0.040 | 1 | 169728058 | missense variant | C/A;T | snv | 4.1E-06; 4.1E-06 | 1 | ||
rs1057519378 | 1.000 | 0.040 | 22 | 37516037 | missense variant | C/A;T | snv | 4.4E-06; 8.7E-06 | 1 | ||
rs139006752 | 1.000 | 0.040 | 22 | 37508609 | missense variant | G/A | snv | 1.7E-03 | 1.4E-03 | 1 | |
rs200148764 | 1.000 | 0.040 | 22 | 37508568 | missense variant | C/T | snv | 2.7E-04 | 1.7E-04 | 1 | |
rs201794655 | 1.000 | 0.040 | 22 | 37492794 | missense variant | G/A | snv | 2.1E-04 | 2.0E-04 | 1 | |
rs750643216 | 1.000 | 0.040 | 22 | 37506365 | missense variant | G/A | snv | 3.3E-05 | 5.6E-05 | 1 | |
rs3801994 | 1.000 | 0.040 | 7 | 116550415 | intron variant | G/A | snv | 7.0E-02 | 1 | ||
rs112983858 | 1.000 | 0.040 | 1 | 160681172 | frameshift variant | C/-;CC;CCC | delins | 5.2E-05 | 1 | ||
rs751497460 | 1.000 | 0.040 | 1 | 160681173 | frameshift variant | -/T | ins | 5.6E-05 | 1 | ||
rs1428758 | 1.000 | 0.040 | 16 | 76307609 | intron variant | A/G | snv | 0.30 | 1 | ||
rs879053914 | 1.000 | 0.040 | MT | 6150 | missense variant | G/A | snv | 1 | |||
rs200165736 | 1.000 | 0.040 | MT | 6253 | missense variant | T/C | snv | 1 | |||
rs199476128 | 1.000 | 0.040 | MT | 6480 | missense variant | G/A | snv | 1 | |||
rs1056837 | 1.000 | 0.040 | 2 | 38071007 | missense variant | A/G;T | snv | 0.63 | 1 | ||
rs185815146 | 1.000 | 0.040 | 10 | 116864069 | intron variant | G/A | snv | 2.9E-03 | 1 |