Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25531 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 72
rs6311 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 41
rs1800541 0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24 5
rs1126858 1.000 0.080 4 76021932 stop lost A/G snv 2.9E-04 2.4E-04 1
rs841 0.827 0.200 14 54843774 splice region variant G/A snv 0.22 0.22 7
rs6860 1.000 0.080 16 89644712 3 prime UTR variant C/T snv 0.32 1
rs1383914 1.000 0.080 8 26865532 5 prime UTR variant T/C snv 0.47 1
rs6313 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 82
rs4818 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 27
rs4633 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 23
rs79448530 1.000 0.080 11 4577726 non coding transcript exon variant C/G;T snv 4.0E-06; 3.7E-02 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 264
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1799971 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 95
rs6280 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 57
rs2297518 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 29
rs1043210477 0.701 0.520 3 49358250 missense variant G/A snv 19
rs5522 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 19
rs224222 0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21 15
rs1129844 0.752 0.320 17 34285875 missense variant G/A;C;T snv 0.16; 1.2E-05 13
rs75634836 0.807 0.160 13 46835532 missense variant C/A;T snv 4.0E-06 11
rs1314305899 0.807 0.280 7 151003224 missense variant C/T snv 7.9E-06 2.1E-05 6