Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs61755320 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 36 | |
rs768823392 | 0.827 | 0.120 | 16 | 89546657 | coding sequence variant | GGCGGGAGA/- | delins | 2.6E-04 | 4.2E-04 | 10 | |
rs312262720 | 0.882 | 0.120 | 15 | 44657230 | frameshift variant | AT/- | del | 4.9E-05 | 5 | ||
rs786200949 | 0.851 | 0.120 | 2 | 240788208 | missense variant | G/A | snv | 4 | |||
rs200133991 | 0.925 | 0.080 | 19 | 29708290 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 3 | |
rs116171274 | 0.882 | 0.120 | 8 | 64596707 | missense variant | G/A;T | snv | 5.2E-04; 8.0E-06 | 3 | ||
rs121908613 | 0.882 | 0.120 | 8 | 64615716 | stop gained | A/G;T | snv | 7.6E-05 | 3 | ||
rs1085307110 | 0.925 | 0.120 | 3 | 134650909 | frameshift variant | -/ATGTCGATAGATACAGCACATGTCGATA | ins | 3 | |||
rs104894490 | 0.827 | 0.240 | 15 | 22812252 | missense variant | G/A;C | snv | 3 | |||
rs864622269 | 0.851 | 0.240 | 14 | 50628394 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs398123015 | 0.925 | 0.080 | 9 | 35737335 | missense variant | C/T | snv | 2 | |||
rs398123012 | 0.925 | 0.080 | 9 | 35738811 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 2 | |
rs1555177629 | 0.925 | 0.120 | 12 | 57567514 | missense variant | C/T | snv | 2 | |||
rs387907288 | 0.925 | 0.080 | 12 | 57569275 | missense variant | G/A | snv | 2 | |||
rs1553316816 | 0.925 | 0.080 | 2 | 32126982 | missense variant | T/A;G | snv | 2 | |||
rs878854991 | 0.882 | 0.080 | 2 | 32141906 | missense variant | G/A | snv | 2 | |||
rs750663981 | 0.925 | 0.080 | 15 | 44598811 | frameshift variant | -/G | delins | 2.0E-05 | 6.3E-05 | 2 | |
rs760818649 | 0.925 | 0.080 | 16 | 89531963 | frameshift variant | C/-;CC | delins | 2 | |||
rs768136171 | 0.925 | 0.080 | 16 | 89529489 | frameshift variant | TG/- | delins | 8.0E-06 | 2.1E-05 | 2 | |
rs587777132 | 0.882 | 0.120 | 2 | 201728592 | stop gained | G/A;T | snv | 1 | |||
rs1554524697 | 1.000 | 0.080 | 8 | 64615168 | frameshift variant | -/A | delins | 1 | |||
rs367916692 | 0.925 | 0.080 | 8 | 64596914 | missense variant | G/A | snv | 5.2E-05 | 7.0E-06 | 1 | |
rs763958615 | 1.000 | 0.080 | 8 | 37753994 | missense variant | A/G;T | snv | 8.0E-06 | 1 | ||
rs66468541 | 0.925 | 0.080 | 2 | 197497275 | missense variant | C/T | snv | 1 | |||
rs548204329 | 1.000 | 0.080 | 2 | 240797722 | missense variant | G/A;T | snv | 4.1E-06 | 1 |