Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7744 | 0.827 | 0.160 | 3 | 38142530 | 3 prime UTR variant | A/G | snv | 0.13 | 5 | ||
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs6084264 | 1.000 | 0.040 | 20 | 3089925 | upstream gene variant | T/C | snv | 0.58 | 1 | ||
rs2282018 | 1.000 | 0.040 | 20 | 3084303 | intron variant | C/T | snv | 0.60 | 1 | ||
rs2770381 | 1.000 | 0.040 | 20 | 3081340 | downstream gene variant | A/C | snv | 0.35 | 1 | ||
rs1410713 | 1.000 | 0.040 | 20 | 3079704 | downstream gene variant | A/C | snv | 0.62 | 1 | ||
rs572115942 | 0.925 | 0.240 | 16 | 30756714 | missense variant | G/A | snv | 8.0E-05 | 7.7E-05 | 7 | |
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 62 | ||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs1447680989 | 1.000 | 0.040 | 2 | 27501147 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs3738435 | 0.925 | 0.080 | 1 | 239907303 | intron variant | T/C | snv | 0.23 | 2 | ||
rs1800797 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 43 | ||
rs1057524907 | 0.925 | 0.080 | 11 | 2159907 | missense variant | T/C | snv | 2 | |||
rs1564911425 | 0.925 | 0.080 | 11 | 2159895 | missense variant | G/C | snv | 2 | |||
rs10770125 | 0.882 | 0.200 | 11 | 2147784 | missense variant | A/G | snv | 0.49 | 0.40 | 4 | |
rs340874 | 0.882 | 0.080 | 1 | 213985913 | non coding transcript exon variant | T/C | snv | 0.40 | 7 | ||
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs534828104 | 0.925 | 0.080 | 3 | 186618566 | missense variant | A/G | snv | 2 | |||
rs4402960 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 21 | ||
rs561017686 | 0.882 | 0.120 | 2 | 181678138 | missense variant | G/A;C | snv | 8.0E-06; 8.4E-04 | 4 | ||
rs8066560 | 0.925 | 0.040 | 17 | 17824729 | intron variant | A/G | snv | 0.64 | 2 | ||
rs775776658 | 1.000 | 0.040 | 11 | 17474926 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.0E-05 | 1 | ||
rs59852838 | 0.882 | 0.120 | 11 | 17453228 | missense variant | T/C | snv | 4.0E-05 | 4.9E-05 | 3 | |
rs1446306735 | 0.882 | 0.120 | 11 | 17395664 | missense variant | C/A;T | snv | 3 | |||
rs1272388614 | 0.851 | 0.080 | 11 | 17395658 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 5 |