Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs1051740 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 56 | |
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs1799977 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 28 | ||
rs768623239 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 26 | ||
rs6214 | 0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 | 26 | ||
rs2854744 | 0.695 | 0.520 | 7 | 45921476 | intron variant | G/T | snv | 0.48 | 20 | ||
rs1042821 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 16 | ||
rs536562413 | 0.732 | 0.240 | 2 | 47799934 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 15 | |
rs2854746 | 0.752 | 0.200 | 7 | 45921046 | missense variant | G/A;C;T | snv | 0.38 | 14 | ||
rs35767 | 0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv | 13 | |||
rs5742612 | 0.752 | 0.440 | 12 | 102481086 | intron variant | A/G | snv | 5.6E-02 | 11 | ||
rs2229765 | 0.807 | 0.280 | 15 | 98934996 | synonymous variant | G/A | snv | 0.40 | 0.39 | 7 | |
rs529008617 | 0.851 | 0.160 | 1 | 45331529 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 | 7 | |
rs730881833 | 0.827 | 0.160 | 1 | 45332242 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 6 | ||
rs63751012 | 0.851 | 0.200 | 3 | 36993656 | stop gained | G/A;C;T | snv | 5 | |||
rs35352891 | 0.827 | 0.200 | 1 | 45331729 | missense variant | G/A | snv | 3.8E-04 | 1.1E-04 | 5 | |
rs8042919 | 0.851 | 0.160 | 15 | 50586433 | missense variant | G/A;T | snv | 8.5E-02 | 5 | ||
rs786202497 | 0.882 | 0.200 | 22 | 28719423 | frameshift variant | C/- | del | 4 | |||
rs2665802 | 0.925 | 0.120 | 17 | 63917670 | intron variant | A/G;T | snv | 0.32 | 4 |