Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799889 0.649 0.600 7 101126430 upstream gene variant A/G snv 31
rs4851527 0.790 0.160 2 102005914 intron variant A/G snv 0.63 7
rs719250 0.827 0.200 2 102007256 intron variant C/T snv 0.11 5
rs2072472 0.732 0.200 2 102026557 intron variant A/G snv 0.24 13
rs199983 1.000 0.040 6 104412396 intergenic variant A/G snv 0.52 1
rs157928 1.000 0.040 7 130896599 intron variant T/C snv 0.29 1
rs4539 0.925 0.080 8 142915123 missense variant T/C snv 0.42 0.38 4
rs6194 1.000 0.040 5 143298796 synonymous variant G/A snv 8.4E-03 3.9E-03 1
rs6188 1.000 0.040 5 143300779 intron variant C/A snv 0.26 0.29 1
rs33388 0.776 0.360 5 143317730 intron variant A/T snv 0.53 12
rs2918417 1.000 0.040 5 143346605 intron variant C/T snv 0.29 1
rs41423247 0.695 0.440 5 143399010 intron variant G/C snv 0.31 23
rs4634384 1.000 0.040 5 143401132 intron variant C/T snv 0.52 1
rs10052957 0.851 0.160 5 143407136 non coding transcript exon variant G/A snv 0.28 4
rs5522 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 19
rs2070951 0.776 0.320 4 148436862 splice region variant G/A;C snv 4.2E-06; 0.53 9
rs1042713 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63
rs1042714 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs1042718 0.925 0.080 5 148827354 missense variant C/A;T snv 0.23; 4.0E-06 3
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs480902 0.882 0.200 1 231395881 intron variant T/C snv 0.64 3
rs2227956 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 12
rs1008438 0.807 0.120 6 31815431 upstream gene variant A/C;T snv 6
rs1043618 0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06 10