Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs121912666 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 34 | ||
rs626283 | 0.827 | 0.160 | 19 | 54173307 | upstream gene variant | C/G | snv | 0.61 | 7 | ||
rs58542926 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 42 | |
rs748204991 | 1.000 | 0.040 | 11 | 130196396 | missense variant | G/A | snv | 2.1E-05 | 7.0E-06 | 1 | |
rs13266634 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 23 | ||
rs56225452 | 0.851 | 0.080 | 19 | 58513279 | upstream gene variant | C/T | snv | 0.18 | 5 | ||
rs738491 | 0.882 | 0.040 | 22 | 43958231 | intron variant | C/T | snv | 0.34 | 3 | ||
rs2143571 | 0.827 | 0.080 | 22 | 43995806 | intron variant | G/A | snv | 0.25 | 5 | ||
rs1014959895 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 16 | ||
rs1251713297 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 15 | ||
rs8192678 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 28 | |
rs2290602 | 0.882 | 0.040 | 4 | 23824109 | intron variant | T/A;G | snv | 3 | |||
rs951599607 | 0.925 | 0.040 | 3 | 12434028 | missense variant | G/A | snv | 4 | |||
rs1800206 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 35 | |
rs1800234 | 0.807 | 0.240 | 22 | 46219983 | missense variant | T/A;C | snv | 4.0E-06; 1.1E-02 | 6 | ||
rs267606959 | 0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 | 19 | ||
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs2896019 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 10 | ||
rs1010023 | 0.851 | 0.080 | 22 | 43940218 | intron variant | T/C | snv | 0.20 | 4 | ||
rs2294918 | 0.925 | 0.040 | 22 | 43946236 | missense variant | A/G | snv | 0.68 | 0.70 | 3 | |
rs11591147 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 28 | ||
rs772114791 | 1.000 | 0.040 | 1 | 55052343 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs2228603 | 0.790 | 0.360 | 19 | 19219115 | missense variant | C/A;T | snv | 2.8E-05; 5.9E-02 | 12 | ||
rs12785878 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 25 |