Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs672601334 0.752 0.400 1 155904798 missense variant G/C snv 17
rs483352822 0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs730881014 0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
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
rs869025195 0.790 0.280 1 155904493 missense variant T/G snv 11
rs869025191 0.827 0.160 1 155904739 missense variant C/A;G;T snv 9
rs267606921 0.882 0.160 1 114713941 missense variant G/A snv 3
rs672601335 0.882 0.160 1 155904456 missense variant C/G snv 3
rs267606920 0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06 2
rs869025189 0.925 0.160 1 155910658 missense variant C/G snv 7.0E-06 2
rs869025193 0.925 0.160 1 155904498 missense variant T/C snv 2
rs869025194 0.882 0.280 1 155904496 missense variant A/C;G;T snv 2
rs869025197 0.925 0.160 1 155904475 missense variant A/G snv 2
rs869025190 1.000 0.160 1 155910462 missense variant C/A snv 1
rs869025192 1.000 0.160 1 155904499 missense variant C/G snv 1
rs869025196 1.000 0.160 1 155904489 missense variant G/A snv 7.0E-06 1
rs397517148 0.776 0.200 2 39023128 missense variant C/T snv 26
rs137852814 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs397517154 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 15
rs267607079 0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs137852813 0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs397517150 0.827 0.160 2 39023118 missense variant A/C;G snv 6
rs137852812 0.851 0.200 2 39051211 missense variant G/T snv 4
rs397517149 0.851 0.200 2 39022786 missense variant T/G snv 4