Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507483 0.790 0.400 7 140753348 missense variant C/A;T snv 13
rs121913338 0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs121913357 0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs397516896 0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs121913351 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs121913370 0.763 0.360 7 140753393 missense variant T/C;G snv 9
rs180177040 0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs121913361 0.807 0.280 7 140753349 missense variant C/A;G;T snv 6
rs121913366 0.763 0.400 7 140753345 missense variant A/C;T snv 6
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1057519718 0.925 0.160 7 140753355 missense variant CA/TC mnv 1
rs869320694 0.742 0.520 8 38414790 missense variant T/C snv 7
rs121909631 0.827 0.280 8 38419696 missense variant T/C snv 1
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs121913478 0.708 0.640 10 121515280 missense variant T/C snv 13
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs104894226 0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs121913233 0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs28933406 0.667 0.480 11 533875 missense variant G/C;T snv 17
rs104894231 0.776 0.360 11 533467 missense variant C/G;T snv 7
rs121917759 0.790 0.480 11 533466 missense variant G/A snv 7
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 3
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19