| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397517112 | 1.000 | 0.080 | 7 | 55181320 | protein altering variant | -/ACC | delins | 1 | |||
| rs397517114 | 1.000 | 0.080 | 7 | 55181323 | protein altering variant | -/CCCACG | delins | 1 | |||
| rs397517116 | 1.000 | 0.080 | 7 | 55181325 | inframe insertion | -/CACGTG | delins | 1 | |||
| rs1554350366 | 1.000 | 0.080 | 7 | 55181324 | protein altering variant | -/GCCACG | delins | 1 | |||
| rs397517108 | 0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv | 1 | |||
| rs397517111 | 1.000 | 0.080 | 7 | 55181319 | inframe insertion | -/GGGTTG | ins | 1 | |||
| rs1555618025 | 1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/TCCGTGATGGCT | delins | 1 | |||
| rs397516976 | 1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/CTCCGTGATGGC | delins | 1 | |||
| rs397516977 | 1.000 | 0.080 | 17 | 39724731 | inframe insertion | -/TACGTGATGGCT | delins | 1 | |||
| rs397516980 | 1.000 | 0.080 | 17 | 39724744 | protein altering variant | G/TTAT | delins | 1 | |||
| rs758222990 | 1.000 | 0.080 | 17 | 39725363 | missense variant | C/G;T | snv | 1.2E-05 | 1 | ||
| rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 1 | |
| rs4402960 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 1 | ||
| rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 1 | ||
| rs121912470 | 0.925 | 0.120 | 5 | 132489448 | missense variant | A/G | snv | 1 | |||
| rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 1 | |
| rs397517040 | 0.925 | 0.120 | 12 | 25245346 | synonymous variant | G/A;T | snv | 4.0E-06 | 1 | ||
| rs727503106 | 1.000 | 0.080 | 12 | 25227234 | missense variant | C/T | snv | 1 | |||
| rs727503094 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 1 | |||
| rs2279744 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 1 | ||
| rs397516978 | 1.000 | 0.080 | 17 | 39724738 | frameshift variant | A/- | del | 1 | |||
| rs397516981 | 1.000 | 0.080 | 17 | 39724748 | inframe insertion | -/GGGCTCCCC | delins | 1 | |||
| rs397516982 | 1.000 | 0.080 | 17 | 39724749 | inframe insertion | -/GGCTCCCCA | delins | 1 | |||
| rs876658657 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
| rs199475643 | 0.882 | 0.240 | 12 | 102894894 | missense variant | T/C | snv | 8.0E-06 | 1 |