Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387907272
MYD88
0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs121434569
EGFR-AS1 ; EGFR
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 18
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 14
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 12
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 11
rs587777589
AARS2
0.851 0.280 6 44311095 frameshift variant -/C delins 7
rs730882245
KIAA1109
0.827 0.160 4 122207168 stop gained T/A snv 6
rs1057518827
NLRP3
1.000 0.040 1 247425248 missense variant A/G snv 3
rs756312947
MIR6515 ; CALR
1.000 0.080 19 12940307 missense variant T/C snv 8.0E-06 2