Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs483352832 1 201364327 missense variant G/A snv 3.2E-05 1
rs869025546 2 178555038 stop gained C/T snv 2.8E-05 1
rs747321794 21 34449462 missense variant G/A snv 2.8E-05 1
rs753988867 1 156137180 missense variant C/T snv 2.1E-05 3.5E-05 1
rs751039219 2 178532605 stop gained G/A;T snv 2.0E-05; 4.0E-06 1
rs45525839 1 201364357 missense variant G/A;C;T snv 4.0E-06; 2.0E-05 1
rs727504851 0.925 0.160 2 178613159 splice donor variant A/- del 1.6E-05 2.8E-05 3
rs574660186 0.807 0.200 2 178579702 stop gained G/A;C snv 1.6E-05 3.5E-05 7
rs111033560 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 7
rs145734640 0.925 0.080 14 23415096 missense variant G/A;C;T snv 1.6E-05; 1.6E-05; 4.0E-06 1
rs397516142 1.000 0.080 14 23425357 missense variant C/A;G;T snv 8.0E-06; 1.6E-05 3
rs121913647 0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 3
rs752856716 2 178632349 frameshift variant -/A delins 1.3E-05 1
rs780512337 2 178565638 stop gained C/A;T snv 1.2E-05 1
rs112188483 0.925 0.160 2 178528273 splice donor variant C/G;T snv 1.2E-05 3
rs772121356 2 178557730 stop gained G/A;T snv 1.2E-05 1
rs59301204 0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05 2
rs121913630 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 3
rs587777587 1.000 3 12584539 missense variant G/A;C snv 1.2E-05; 4.0E-06 1.4E-05 2
rs397517244
VCL
10 74072792 stop gained C/T snv 1.2E-05 1.4E-05 1
rs397516973
DSP
6 7565448 stop gained C/A;T snv 1.2E-05 1
rs397516253 14 23413823 missense variant C/G;T snv 1.2E-05 1
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 3
rs377491278 14 23427773 missense variant C/T snv 1.2E-05 1.4E-05 1
rs45516091 14 23431608 missense variant G/A snv 1.2E-05 7.0E-06 2