Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv 22
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs199469464
SRCAP
0.807 0.200 16 30737370 stop gained C/T snv 8
rs1339616347
WRN
0.925 0.120 8 31068328 splice donor variant G/T snv 6