Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554041295
ZSWIM6
0.925 0.160 5 61541917 stop gained C/T snv 2
rs369691608
ZNF142 ; BCS1L
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 5
rs869025316
UNC80
0.925 0.160 2 209918616 missense variant C/T snv 3.8E-05 2.8E-05 4
rs869025317
UNC80
0.925 0.160 2 209959707 missense variant G/C snv 4
rs869025318
UNC80
0.925 0.160 2 209820379 frameshift variant A/- delins 4
rs869025319
UNC80
0.925 0.160 2 209967586 stop gained T/A snv 4
rs45514095
TSC2
0.925 0.160 16 2085323 splice donor variant G/A snv 2
rs797045036
TRNT1 ; CRBN
0.925 0.160 3 3151023 missense variant A/G snv 2
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs796052056
TMEM70
0.882 0.240 8 73976397 frameshift variant -/GT delins 3
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs1556024875
THOC2
0.882 0.160 X 123634002 missense variant G/A snv 4
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs796053356
STXBP1
0.882 0.160 9 127663344 missense variant G/A snv 4
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs1554691658
PTCH1
0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 11
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 16
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 15
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins 6
rs386834034
POMGNT1 ; TSPAN1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 9
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64