Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3775296 0.851 0.160 4 186076613 splice region variant C/A snv 0.18 0.18 6
rs1196547982 0.925 0.120 4 153703650 missense variant A/G snv 4.0E-06 7.0E-06 2
rs1531289
KDR
0.925 0.080 4 55089065 intron variant T/A;C snv 2
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs6568431 0.790 0.320 6 106140931 intron variant A/C snv 0.61 7
rs2245214 0.827 0.240 6 106214866 intron variant C/G snv 0.42 6
rs13194491 1.000 0.040 6 27069301 intergenic variant C/T snv 4.8E-02 5
rs760370 0.925 0.120 6 44233216 intron variant A/G snv 0.36 3
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1128503 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs7385804 0.851 0.120 7 100638347 intron variant C/A snv 0.65 14
rs768843272 0.925 0.080 7 100629298 missense variant T/C snv 8.4E-05 7.7E-05 2
rs2071346 0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 3
rs4645948 0.882 0.160 8 127736252 synonymous variant C/T snv 2.8E-02 3
rs1554544862 1.000 0.040 8 41694003 frameshift variant TGGAACTTCCGGCGCCGGGG/- delins 1
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs775910328 0.882 0.120 9 117713471 missense variant A/G snv 4.0E-06 3
rs1470452230 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 2
rs363717 1.000 0.040 9 104782419 3 prime UTR variant C/T snv 0.85 1
rs1934951 0.925 0.160 10 95038791 intron variant C/T snv 0.24 4
rs10761745 0.882 0.240 10 63341311 intron variant G/C snv 0.87 3