Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913231 | 1.000 | 0.080 | 7 | 55174794 | missense variant | C/T | snv | 8.0E-06 | 2 | ||
rs121913430 | 1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv | 2 | |||
rs397516979 | 1.000 | 0.080 | 17 | 39724744 | protein altering variant | -/TCT;TGT;TTT | ins | 2 | |||
rs1057519858 | 1.000 | 0.080 | 19 | 1220495 | missense variant | G/T | snv | 1 | |||
rs121913420 | 1.000 | 0.080 | 7 | 55174737 | missense variant | G/A | snv | 1 | |||
rs121913427 | 1.000 | 0.080 | 7 | 55174773 | missense variant | G/A;C | snv | 1 | |||
rs121913432 | 1.000 | 0.080 | 7 | 55181327 | missense variant | A/G | snv | 1 | |||
rs121913464 | 1.000 | 0.080 | 7 | 55174792 | missense variant | C/A | snv | 1 | |||
rs121913466 | 1.000 | 0.080 | 7 | 55174762 | missense variant | T/C | snv | 1 | |||
rs121913467 | 1.000 | 0.080 | 7 | 55174730 | stop gained | G/A | snv | 1 | |||
rs1554350366 | 1.000 | 0.080 | 7 | 55181324 | protein altering variant | -/GCCACG | delins | 1 | |||
rs1555618025 | 1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/TCCGTGATGGCT | delins | 1 | |||
rs397516890 | 1.000 | 0.080 | 7 | 140781601 | inframe deletion | TCC/- | del | 1 | |||
rs397516897 | 1.000 | 0.080 | 7 | 140753334 | inframe deletion | TCA/- | del | 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 | |||
rs397516978 | 1.000 | 0.080 | 17 | 39724738 | frameshift variant | A/- | del | 1 | |||
rs397516980 | 1.000 | 0.080 | 17 | 39724744 | protein altering variant | G/TTAT | delins | 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 | |||
rs397517086 | 1.000 | 0.080 | 7 | 55173986 | inframe deletion | AAC/- | del | 1 | |||
rs397517094 | 1.000 | 0.080 | 7 | 55174769 | protein altering variant | CAAGGAATTAAGAGAAGC/AAA | delins | 1 | |||
rs397517098 | 1.000 | 0.080 | 7 | 55174777 | inframe deletion | TAAGAGAAG/- | del | 1 | |||
rs397517106 | 1.000 | 0.080 | 7 | 55181287 | coding sequence variant | -/TCCAGGAAGCCT | delins | 1 | |||
rs397517111 | 1.000 | 0.080 | 7 | 55181319 | inframe insertion | -/GGGTTG | ins | 1 |