Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1400537035 | 0.882 | 0.200 | 7 | 101131931 | missense variant | C/A;G;T | snv | 3 | |||
rs727503744 | 1.000 | 0.120 | 3 | 10141770 | 5 prime UTR variant | CGCACGCAGCTCCGCCCCGCG/- | delins | 1 | |||
rs35460768 | 0.925 | 0.160 | 3 | 10141921 | missense variant | C/T | snv | 3.0E-03 | 2.6E-03 | 2 | |
rs373068386 | 1.000 | 0.120 | 3 | 10142001 | stop gained | G/A;T | snv | 6.3E-05; 1.0E-05 | 1 | ||
rs886041345 | 1.000 | 0.120 | 3 | 10142008 | frameshift variant | -/AGGCCGGG | delins | 1 | |||
rs869025615 | 1.000 | 0.120 | 3 | 10142009 | frameshift variant | G/-;GG | delins | 2 | |||
rs1064796408 | 0.925 | 0.160 | 3 | 10142023 | frameshift variant | GGCCCGTGCTGCGC/- | delins | 2 | |||
rs1553619402 | 1.000 | 0.120 | 3 | 10142035 | frameshift variant | -/G | delins | 1 | |||
rs869025647 | 1.000 | 0.120 | 3 | 10142036 | frameshift variant | GCGC/- | del | 1 | |||
rs104893826 | 0.882 | 0.200 | 3 | 10142038 | missense variant | G/A;C | snv | 4 | |||
rs730882031 | 1.000 | 0.120 | 3 | 10142039 | frameshift variant | C/- | del | 2 | |||
rs869025616 | 0.925 | 0.160 | 3 | 10142040 | missense variant | T/C;G | snv | 2 | |||
rs5030826 | 0.827 | 0.200 | 3 | 10142041 | stop gained | C/A;G;T | snv | 5 | |||
rs869025617 | 1.000 | 0.120 | 3 | 10142050 | stop gained | C/A;T | snv | 1 | |||
rs1553619415 | 1.000 | 0.120 | 3 | 10142052 | frameshift variant | -/G | delins | 1 | |||
rs5030802 | 1.000 | 0.120 | 3 | 10142055 | stop gained | G/A;T | snv | 4.4E-06 | 2 | ||
rs869025618 | 1.000 | 0.120 | 3 | 10142061 | missense variant | T/C | snv | 2 | |||
rs869025619 | 1.000 | 0.120 | 3 | 10142064 | stop gained | C/G;T | snv | 1 | |||
rs5030803 | 1.000 | 0.120 | 3 | 10142068 | missense variant | T/A;C;G | snv | 1 | |||
rs794729660 | 1.000 | 0.120 | 3 | 10142068 | inframe deletion | ATC/- | delins | 1 | |||
rs869025620 | 1.000 | 0.120 | 3 | 10142068 | frameshift variant | T/- | del | 1 | |||
rs5030648 | 0.925 | 0.160 | 3 | 10142071 | inframe deletion | TCT/- | delins | 2 | |||
rs1060503552 | 0.925 | 0.160 | 3 | 10142073 | frameshift variant | TT/- | del | 2 | |||
rs730882033 | 1.000 | 0.120 | 3 | 10142074 | missense variant | T/A;C;G | snv | 1 | |||
rs869025621 | 0.882 | 0.240 | 3 | 10142079 | missense variant | A/C;G;T | snv | 4 |