Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 62 | ||
rs572115942 | 0.925 | 0.240 | 16 | 30756714 | missense variant | G/A | snv | 8.0E-05 | 7.7E-05 | 7 | |
rs1410713 | 1.000 | 0.040 | 20 | 3079704 | downstream gene variant | A/C | snv | 0.62 | 1 | ||
rs2770381 | 1.000 | 0.040 | 20 | 3081340 | downstream gene variant | A/C | snv | 0.35 | 1 | ||
rs2282018 | 1.000 | 0.040 | 20 | 3084303 | intron variant | C/T | snv | 0.60 | 1 | ||
rs6084264 | 1.000 | 0.040 | 20 | 3089925 | upstream gene variant | T/C | snv | 0.58 | 1 | ||
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs7744 | 0.827 | 0.160 | 3 | 38142530 | 3 prime UTR variant | A/G | snv | 0.13 | 5 | ||
rs1320702652 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 11 | ||
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs1057524900 | 0.925 | 0.080 | 7 | 44145173 | missense variant | G/A;T | snv | 4.2E-06 | 2 | ||
rs1057524901 | 0.925 | 0.080 | 7 | 44145190 | frameshift variant | G/- | del | 2 | |||
rs755498926 | 1.000 | 0.040 | 7 | 44145228 | missense variant | T/C | snv | 4.1E-06 | 1 | ||
rs1057524902 | 0.882 | 0.080 | 7 | 44145495 | splice donor variant | A/T | snv | 3 | |||
rs193929375 | 0.882 | 0.120 | 7 | 44145560 | missense variant | C/A | snv | 3 | |||
rs193922262 | 0.925 | 0.080 | 7 | 44145636 | stop gained | C/A;G | snv | 4.3E-06 | 2 | ||
rs556581174 | 0.925 | 0.080 | 7 | 44145637 | stop gained | G/A;C;T | snv | 2 | |||
rs1057524903 | 0.925 | 0.080 | 7 | 44146466 | missense variant | T/C | snv | 2 | |||
rs397514580 | 0.925 | 0.080 | 7 | 44146467 | missense variant | C/T | snv | 2 | |||
rs193922331 | 0.882 | 0.080 | 7 | 44147726 | missense variant | A/G | snv | 7.0E-06 | 4 | ||
rs1057524904 | 0.882 | 0.080 | 7 | 44147765 | missense variant | G/A | snv | 3 | |||
rs1562715574 | 0.925 | 0.080 | 7 | 44147795 | missense variant | T/C | snv | 2 | |||
rs1057524905 | 0.882 | 0.080 | 7 | 44147834 | splice acceptor variant | C/T | snv | 3 | |||
rs746913146 | 1.000 | 0.040 | 7 | 44149816 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs1085307455 | 0.925 | 0.080 | 7 | 44149977 | missense variant | G/A;T | snv | 8.0E-06 | 2 |