Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs760187215 1.000 0.040 14 23431859 missense variant C/T snv 8.0E-06 6
rs1114167453 1.000 19 45385569 stop gained G/C snv 4
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 3
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del 3
rs371678190 1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05 3
rs397516028 1.000 0.080 11 47332594 missense variant A/G snv 3
rs397516142 1.000 0.080 14 23425357 missense variant C/A;G;T snv 8.0E-06; 1.6E-05 3
rs45544633 1.000 0.080 14 23417174 missense variant G/A snv 3
rs57508089 1.000 0.080 1 156136110 synonymous variant C/T snv 3
rs730880365 1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06 3
rs794728602 1.000 0.040 1 156115168 missense variant G/A snv 3
rs886040968 1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins 3
rs140743001 1.000 0.040 2 178630250 stop gained G/A snv 8.1E-06 1.4E-05 2
rs1553603152 1.000 0.040 2 178570586 stop gained G/T snv 2
rs1553742630 1.000 0.080 2 178633900 frameshift variant -/C ins 2
rs1553974835 1.000 0.040 4 173529091 stop gained C/A snv 2
rs1554105614
DSP
1.000 0.080 6 7555773 stop gained C/T snv 2
rs1564664312 1.000 0.040 10 110821333 missense variant T/A snv 2
rs199473161 1.000 0.080 3 38586038 missense variant G/A;T snv 2
rs267607002 1.000 0.040 10 110812303 missense variant C/A;T snv 2
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv 2
rs267607554 1.000 0.080 1 156135925 stop gained C/T snv 2
rs267607573 1.000 0.080 1 156134865 stop gained C/T snv 2
rs267607618 1.000 0.080 1 156136350 stop gained C/T snv 2
rs267607646 1.000 0.080 1 156115265 frameshift variant -/G delins 2