Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12720458 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs199473457 0.827 0.200 11 2572020 missense variant C/A;T snv 11
rs120074193 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 6
rs17221854 0.807 0.120 11 2777990 missense variant C/T snv 1.6E-05 6
rs199472709 0.790 0.120 11 2572021 missense variant G/A;T snv 6
rs199472795 0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06 6
rs397508097 0.807 0.120 11 2768917 stop gained C/T snv 2.8E-05 1.4E-05 6
rs74315445 0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05 5
rs17215500 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 5
rs120074186 0.851 0.120 11 2572979 stop gained G/A;C;T snv 1.6E-05; 4.0E-06; 4.0E-06 4
rs397508118 0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-05 4
rs746877365
DSP
0.882 0.160 6 7579527 stop gained C/G;T snv 4.0E-06 3
rs28928905 0.851 0.120 7 150952514 missense variant C/G;T snv 3
rs120074185 0.925 0.120 11 2776032 missense variant C/A;T snv 1.1E-05; 1.1E-05 3
rs120074190 0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05 3
rs12720459 0.807 0.160 11 2583535 missense variant C/A;G;T snv 3
rs151344631 0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05 3
rs1554920808 1.000 0.120 11 2776991 missense variant A/G snv 3
rs1800171 0.882 0.120 11 2583545 splice region variant G/A;C;T snv 4.0E-06 3
rs199472720 0.925 0.120 11 2572105 missense variant G/A;T snv 1.6E-05 3
rs199472776 0.882 0.120 11 2587630 missense variant C/G;T snv 4.0E-06; 2.0E-04 3
rs199473411 0.882 0.120 11 2585275 missense variant C/A;T snv 3
rs199473442 1.000 0.120 11 2445103 missense variant C/G;T snv 3
rs397508111 0.882 0.120 11 2528023 splice region variant G/A;C snv 1.2E-05 3
rs397508112 0.882 0.120 11 2570638 frameshift variant T/- del 3