Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894760 0.851 0.080 X 153905816 missense variant C/T snv 1
rs878855334 1.000 0.080 12 88077224 stop gained T/A;C snv 4.2E-06 1
rs61893682 1.000 0.080 11 62150080 missense variant G/C snv 2.8E-03 2.5E-03 1
rs1322951938 1.000 0.080 9 100293045 splice donor variant T/C;G snv 1
rs1425211517 1.000 0.080 9 100297017 stop gained C/T snv 1
rs150001738 1.000 0.080 9 100284591 stop gained A/G;T snv 3.1E-04 3.3E-04 1
rs1564123602 1.000 0.080 9 100126450 frameshift variant -/CAGA delins 1
rs376879175 1.000 0.080 9 100293039 stop gained C/A;T snv 1.2E-05; 1.6E-05 1
rs878855332 1.000 0.080 9 100253088 frameshift variant G/- delins 1
rs878855333 1.000 0.080 9 100300600 frameshift variant A/- delins 1
rs1280238814 1.000 0.080 3 121772620 stop gained G/A snv 8.0E-06 1
rs727503968 1.000 0.080 3 121790112 stop gained G/A snv 5.6E-05 5.6E-05 1
rs765263671 1.000 0.080 2 110161686 stop gained G/A snv 2.0E-05 1
rs201237799 1.000 0.080 3 132691199 stop gained G/A snv 4.0E-05 2.1E-05 1
rs758238787 1.000 0.080 3 132687223 stop gained A/G;T snv 4.2E-06 1
rs771215577 1.000 0.080 3 132687195 frameshift variant -/T delins 4.1E-06 7.0E-06 1
rs773521620 1.000 0.080 3 132722296 stop gained G/A;C snv 7.0E-06 1
rs1553773271 1.000 0.080 3 132699352 splice donor variant C/T snv 1
rs1560000875 1.000 0.080 3 132686280 stop gained G/C snv 1
rs1560002147 1.000 0.080 3 132688818 frameshift variant -/G delins 1
rs758498695 1.000 0.080 3 132713256 missense variant C/T snv 1.2E-05 1
rs1560017690 1.000 0.080 3 132719814 frameshift variant T/- del 1
rs1210874691 1.000 0.080 1 5927733 stop gained C/A snv 2.1E-05 1
rs398124289 1.000 0.080 1 5874973 frameshift variant -/GAGCG delins 1.2E-05 1
rs878855335 1.000 0.080 16 4335394 splice donor variant G/T snv 1