Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs11209026 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 46 | |
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs1061622 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 33 | |
rs6679677 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 26 | ||
rs8192284 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 19 | |||
rs1050501 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 15 | |
rs11580078 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 14 | |||
rs2066363 | 0.724 | 0.240 | 1 | 81771892 | intron variant | C/T | snv | 0.71 | 14 | ||
rs34884278 | 0.724 | 0.240 | 1 | 172869708 | intron variant | C/T | snv | 0.63 | 14 | ||
rs396991 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 14 | ||
rs55705316 | 0.724 | 0.240 | 1 | 206760172 | regulatory region variant | T/A;G | snv | 14 | |||
rs6689858 | 0.724 | 0.240 | 1 | 197406337 | intron variant | T/C | snv | 0.39 | 14 | ||
rs228648 | 0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 | 13 | |
rs33996649 | 0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 | 13 | |
rs7528684 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 13 | ||
rs2488457 | 0.763 | 0.480 | 1 | 113872746 | intron variant | G/A;C | snv | 11 | |||
rs3789604 | 0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 | 9 | ||
rs3748816 | 0.827 | 0.200 | 1 | 2595307 | missense variant | A/G | snv | 0.41 | 0.46 | 7 | |
rs3761959 | 0.827 | 0.320 | 1 | 157699488 | intron variant | C/A;G;T | snv | 7 | |||
rs11264799 | 0.851 | 0.240 | 1 | 157700967 | upstream gene variant | C/T | snv | 0.28 | 6 | ||
rs11805303 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 6 | ||
rs10797431 | 0.851 | 0.080 | 1 | 2569783 | non coding transcript exon variant | G/T | snv | 0.42 | 5 | ||
rs10903122 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 5 |