Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs759985000 | 11 | 27700987 | 5 prime UTR variant | G/A;C | snv | 4.2E-06; 8.4E-06 | 2 | ||||
rs2144151 | 20 | 903001 | intron variant | T/G | snv | 0.40 | 1 | ||||
rs313158 | 6 | 85334045 | intergenic variant | A/T | snv | 1.8E-02 | 1 | ||||
rs764821003 | 3 | 30671823 | missense variant | G/A | snv | 1.4E-05 | 1 | ||||
rs387906853 | 0.925 | 0.040 | 15 | 67181297 | stop gained | G/A;T | snv | 3 | |||
rs34203073 | 1.000 | 0.040 | 5 | 77035624 | missense variant | G/A | snv | 1.0E-02 | 9.9E-03 | 2 | |
rs755460305 | 0.882 | 0.080 | 3 | 186732650 | missense variant | C/A | snv | 4 | |||
rs1967309 | 0.925 | 0.080 | 16 | 4015582 | non coding transcript exon variant | A/G | snv | 0.51 | 3 | ||
rs6809699 | 1.000 | 0.080 | 3 | 151338810 | synonymous variant | A/C | snv | 0.87 | 0.88 | 2 | |
rs1122608 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 16 | ||
rs121918095 | 0.827 | 0.160 | 18 | 31598602 | missense variant | G/A | snv | 7.9E-04 | 2.2E-04 | 6 | |
rs12938 | 0.851 | 0.160 | 1 | 169691640 | 3 prime UTR variant | A/G | snv | 0.27 | 5 | ||
rs267606743 | 1.000 | 0.160 | 13 | 110192222 | missense variant | C/T | snv | 5 | |||
rs28933981 | 0.807 | 0.200 | 18 | 31598647 | missense variant | C/T | snv | 1.5E-03 | 1.7E-03 | 8 | |
rs1042579 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 16 | ||
rs749437638 | 0.752 | 0.240 | 22 | 19968597 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 14 | |
rs763000109 | 0.827 | 0.240 | 6 | 31575788 | missense variant | C/G;T | snv | 4.1E-06; 1.6E-05 | 9 | ||
rs2303790 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 19 | |
rs1800458 | 0.851 | 0.280 | 18 | 31592902 | missense variant | G/A | snv | 5.1E-02 | 5.2E-02 | 5 | |
rs579459 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 28 | ||
rs112735431 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 24 | ||
rs765798193 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 18 | |||
rs80356814 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 15 | ||
rs121918027 | 0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 | 7 | |
rs11591147 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 28 |