Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 16
rs1057518849
EHMT1
0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06 4
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 5
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1189909394
KCNK4-TEX40 ; KCNK4
11 64298178 missense variant G/A;C snv 7.0E-06 5
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs1223073957
MED25
0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 12
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 15
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs142110773
FIGNL1 ; DDC
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 13
rs147030232
BBS2
0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 8
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs1553196096
CDC42
1 22086463 missense variant G/A snv 5
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv 6