Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs114925667 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs780533096 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs397514698 0.667 0.400 9 77797577 missense variant C/T snv 41
rs653178 0.672 0.600 12 111569952 intron variant C/T snv 0.67 36
rs13107325 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 30
rs61816761 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 28
rs374052333 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs759191907 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 25
rs495828 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 18
rs1064795104 0.790 0.440 2 72498492 stop gained A/C snv 17
rs7725052 0.716 0.240 5 40487168 intron variant C/T snv 0.52 16
rs36051895 0.716 0.240 9 4981866 upstream gene variant G/T snv 0.25 15
rs2155219 0.732 0.280 11 76588150 upstream gene variant G/T snv 0.52 12
rs2228145 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 12
rs387906760 0.790 0.200 2 190995184 missense variant C/T snv 12
rs1555483699 0.851 0.120 16 9768994 missense variant C/T snv 10
rs3918226 0.925 0.080 7 150993088 intron variant C/T snv 5.7E-02 10
rs4845604 0.776 0.200 1 151829204 intron variant G/A;C;T snv 10
rs61839660 0.776 0.280 10 6052734 intron variant C/T snv 5.7E-02 9
rs6894249 0.776 0.160 5 132461855 non coding transcript exon variant A/G snv 0.45 9
rs112401631 0.882 0.120 17 40608272 TF binding site variant T/A snv 1.1E-02 8
rs1837253 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 8
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 8
rs34290285 0.851 0.120 2 241759225 intron variant G/A snv 0.27 8
rs558269137 0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8