Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs764146326 0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 20
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs863224451 0.701 0.440 17 7673796 missense variant C/A;G;T snv 19
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs483352697 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 17
rs121912657 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 15
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 14
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs121913357 0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs121913351 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs121913361 0.807 0.280 7 140753349 missense variant C/A;G;T snv 6
rs121913527 0.807 0.320 12 25225628 missense variant C/A;G;T snv 2
rs587781288 0.732 0.440 17 7675190 missense variant C/A;T snv 15
rs397507483 0.790 0.400 7 140753348 missense variant C/A;T snv 13
rs121913502 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 6
rs104894340 0.827 0.200 12 57751647 missense variant C/A;T snv 5
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 1
rs397516896 0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs104894231 0.776 0.360 11 533467 missense variant C/G;T snv 7
rs121913482 0.630 0.680 4 1801837 missense variant C/T snv 35
rs10936599 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 1
rs12203592 0.649 0.320 6 396321 intron variant C/T snv 0.10 1