Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs243865 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 48 | ||
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 73 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 73 | |||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs781517199 | 20 | 50082788 | missense variant | C/G | snv | 4.0E-06 | 1 | ||||
rs2228526 | 0.752 | 0.200 | 10 | 49470671 | missense variant | T/C | snv | 0.22 | 0.19 | 13 | |
rs2228529 | 0.925 | 0.080 | 10 | 49459059 | missense variant | T/C | snv | 0.22 | 0.19 | 4 | |
rs893810317 | X | 48793910 | missense variant | C/T | snv | 1 | |||||
rs387906717 | 0.827 | 0.120 | X | 48688403 | missense variant | T/C | snv | 6 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs4898 | 0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 | 25 | |
rs3918242 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 54 | ||
rs1265794840 | 0.851 | 0.160 | 19 | 45365131 | missense variant | C/T | snv | 7.0E-06 | 6 | ||
rs755174338 | 0.732 | 0.360 | 19 | 45364096 | missense variant | C/T | snv | 2.6E-05 | 1.4E-05 | 15 | |
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs267607040 | 0.851 | 0.320 | 18 | 44951948 | missense variant | G/A | snv | 5 | |||
rs267607042 | 0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv | 5 | |||
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs121913615 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 25 | ||
rs371769427 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 24 | ||
rs371246226 | 0.827 | 0.160 | 21 | 43094667 | missense variant | T/C;G | snv | 2.4E-05; 2.4E-05 | 8 | ||
rs2267437 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 19 | |||
rs3745274 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 30 |