Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121913255 0.667 0.400 1 114713907 missense variant T/A;G snv 19
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
rs36053993 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 9
rs587782228 0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06 3
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 1
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 1
rs121913248 1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06 1
rs121913254 0.658 0.440 1 114713909 stop gained G/A;C;T snv 1
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs397514606 0.763 0.320 1 243695714 missense variant C/T snv 1
rs4950928 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 1
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs202247795 1.000 0.040 2 211702102 missense variant C/T snv 1
rs267599192 1.000 0.040 2 211673250 missense variant G/A snv 1
rs267599193 1.000 0.040 2 211713583 missense variant C/T snv 1
rs267599211 0.882 0.080 2 218584683 missense variant C/T snv 1
rs535202189 1.000 0.040 2 211673256 missense variant C/T snv 6.8E-05 1
rs55671017 1.000 0.040 2 211705339 missense variant G/A;T snv 8.0E-06; 6.4E-04 1
rs776347334 1.000 0.040 2 211430974 missense variant C/T snv 1.2E-05 1
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121913274 0.645 0.320 3 179218304 missense variant A/C;G;T snv 28