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 | |||
rs397516975 | 0.925 | 0.080 | 17 | 39724728 | inframe insertion | -/ATACGTGATGGC | delins | 2 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs397517116 | 1.000 | 0.080 | 7 | 55181325 | inframe insertion | -/CACGTG | delins | 1 | |||
rs397517114 | 1.000 | 0.080 | 7 | 55181323 | protein altering variant | -/CCCACG | delins | 1 | |||
rs397516976 | 1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/CTCCGTGATGGC | delins | 1 | |||
rs1554350366 | 1.000 | 0.080 | 7 | 55181324 | protein altering variant | -/GCCACG | delins | 1 | |||
rs397516982 | 1.000 | 0.080 | 17 | 39724749 | inframe insertion | -/GGCTCCCCA | delins | 1 | |||
rs397516981 | 1.000 | 0.080 | 17 | 39724748 | inframe insertion | -/GGGCTCCCC | delins | 1 | |||
rs397517111 | 1.000 | 0.080 | 7 | 55181319 | inframe insertion | -/GGGTTG | ins | 1 | |||
rs5879422 | 1.000 | 0.080 | 6 | 117463495 | intron variant | -/GT | delins | 0.54 | 1 | ||
rs397516977 | 1.000 | 0.080 | 17 | 39724731 | inframe insertion | -/TACGTGATGGCT | delins | 1 | |||
rs10680577 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 10 | |||
rs727502902 | 0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 | 4 | ||
rs397517106 | 1.000 | 0.080 | 7 | 55181287 | coding sequence variant | -/TCCAGGAAGCCT | delins | 1 | |||
rs1555618025 | 1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/TCCGTGATGGCT | delins | 1 | |||
rs397516979 | 1.000 | 0.080 | 17 | 39724744 | protein altering variant | -/TCT;TGT;TTT | ins | 2 | |||
rs34917480 | 0.925 | 0.160 | 2 | 54972426 | 3 prime UTR variant | -/TTA | ins | 7.0E-06 | 3 | ||
rs28381975 | 0.827 | 0.200 | 3 | 33798239 | intron variant | -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA | delins | 5 | |||
rs397516978 | 1.000 | 0.080 | 17 | 39724738 | frameshift variant | A/- | del | 1 | |||
rs182073550 | 1.000 | 0.080 | 4 | 40337027 | intron variant | A/-;AA;AAA | delins | 1.2E-02 | 1 | ||
rs11375254 | 0.882 | 0.080 | 3 | 189625454 | intergenic variant | A/-;AA;AAA;AAAA | delins | 3 | |||
rs61764370 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 29 | ||
rs2072671 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 16 | |
rs12951053 | 0.732 | 0.160 | 17 | 7674089 | intron variant | A/C | snv | 0.10 | 14 |