Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs3743930 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 43 | ||
rs1051266 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 41 | ||
rs1127354 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 26 | ||
rs763361 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 21 | ||
rs35761398 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 19 | |||
rs2501432 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 16 | ||
rs4246905 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 16 | ||
rs62324212 | 0.724 | 0.240 | 4 | 122639784 | intron variant | C/A;G | snv | 15 | |||
rs10988542 | 0.724 | 0.240 | 9 | 129894985 | intron variant | G/A;C | snv | 14 | |||
rs11145763 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 14 | |||
rs11580078 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 14 | |||
rs1332099 | 0.724 | 0.240 | 10 | 99538694 | downstream gene variant | T/C;G | snv | 14 | |||
rs2738774 | 0.724 | 0.240 | 20 | 63637985 | downstream gene variant | G/A;C | snv | 14 | |||
rs2807264 | 0.724 | 0.240 | X | 136583619 | downstream gene variant | C/A | snv | 14 | |||
rs30187 | 0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 | 14 | ||
rs4869313 | 0.724 | 0.240 | 5 | 96888176 | intron variant | T/A;G | snv | 14 | |||
rs55705316 | 0.724 | 0.240 | 1 | 206760172 | regulatory region variant | T/A;G | snv | 14 | |||
rs7660520 | 0.724 | 0.240 | 4 | 182824168 | upstream gene variant | G/A;C | snv | 14 | |||
rs7831697 | 0.724 | 0.240 | 8 | 137124061 | regulatory region variant | T/A;C;G | snv | 14 | |||
rs879761216 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 14 |