Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06 10
rs267607116
TMEM67
0.851 0.160 8 93808861 missense variant G/A;C snv 8
rs1554823375
WDR37
0.851 0.160 10 1080454 missense variant C/T snv 8
rs1554555063
TMEM67
0.882 0.160 8 93791324 splice region variant G/A snv 7
rs773386777
CEP290
1.000 0.160 12 88093977 splice acceptor variant T/C snv 6
rs730882250
DPH1
0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 5
rs765468645
TMEM67
0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 5
rs1554558365
TMEM67
0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 4
rs1558519119
BCL11A
0.925 0.120 2 60546061 frameshift variant C/- del 3
rs1057523157
SETD2
0.925 0.120 3 47088172 missense variant G/A snv 3
rs1565627707
TUBA1A
0.925 0.240 12 49186657 missense variant C/A snv 3
rs1557667078
AHDC1
1.000 0.200 1 27551119 frameshift variant C/- delins 2
rs1569240005
DDX3X
1.000 X 41346352 missense variant G/C snv 2
rs1563436265
FGFR1
1.000 0.280 8 38414875 missense variant C/G snv 2
rs1553709881
FOXP1
1.000 3 71046984 stop gained G/A snv 2
rs532329866
FOXP1
1.000 3 71198338 missense variant G/A snv 2.4E-04 1.5E-04 2
rs794727970
STXBP1
1.000 0.040 9 127666206 missense variant G/A snv 2