Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1048798213
APC
1.000 0.120 5 112837872 missense variant C/G snv 1
rs1442780982
APC
1.000 0.120 5 112837977 missense variant C/A;G;T snv 4.0E-06 1
rs12553173 1.000 0.120 9 35674104 synonymous variant T/C snv 0.14 0.20 1
rs587782274 1.000 0.120 11 108312465 missense variant A/C snv 1
rs876658517 1.000 0.120 11 108327735 missense variant A/G;T snv 1
rs706209
CBS
1.000 0.120 21 43053315 3 prime UTR variant G/A snv 1
rs8101626 1.000 0.120 19 10135353 intron variant G/A snv 0.64 1
rs34048824 1.000 0.120 2 25312674 intron variant T/C snv 0.42 1
rs1397145500 1.000 0.120 17 64066782 missense variant T/C snv 4.0E-06 1.4E-05 1
rs78683075 1.000 0.120 17 17222565 missense variant G/A snv 2.6E-04 2.4E-04 1
rs372947534 1.000 0.120 5 180626237 missense variant G/A snv 4.0E-05 6.3E-05 1
rs1055259 1.000 0.120 1 109734239 3 prime UTR variant T/C snv 0.12 1
rs71682980 1.000 0.120 14 23855957 intergenic variant A/-;AA;AAA;AAAA;AAAAA;AAAAAAA delins 1
rs2279776 1.000 0.120 9 8389364 synonymous variant C/G;T snv 0.50; 4.0E-06 1
rs147608663 1.000 0.120 5 97171338 missense variant A/G snv 2.8E-05; 8.1E-06 4.9E-05 1
rs864321679 1.000 0.120 3 52563364 frameshift variant CACTATCT/- delins 1
rs1642742
VHL
1.000 0.120 3 10150259 3 prime UTR variant G/A snv 0.57 1
rs1642743
VHL
1.000 0.120 3 10148783 intron variant C/G;T snv 1
rs11813268 0.925 0.120 10 103922538 upstream gene variant C/T snv 0.31 2
rs1417080 0.925 0.120 9 79515946 non coding transcript exon variant T/C snv 0.35 2
rs3118523 0.925 0.120 9 134443675 downstream gene variant G/A snv 0.75 2
rs6466135 0.925 0.120 7 106861053 upstream gene variant A/G snv 0.71 2
rs7132434 0.925 0.120 12 26319629 non coding transcript exon variant A/G snv 0.62 2
rs748964 0.925 0.120 9 134442243 downstream gene variant C/G;T snv 2
rs1154454 0.925 0.120 4 99417185 intron variant A/G snv 0.22 2