Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv 8
rs1555928716
RPS6KA3
0.925 X 20167669 stop gained G/A snv 7
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs1057517825
DERL3 ; SMARCB1
0.925 22 23834143 missense variant G/A snv 4
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs148234606
SLC52A2
0.925 8 144360604 missense variant T/C snv 7.0E-05 7.7E-05 4
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1553749681
DOCK3
0.925 3 51064514 stop gained C/T snv 4
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv 4
rs1554770667
GRIN1
0.882 9 137163845 missense variant C/T snv 4
rs1555873985
KCNQ2 ; KCNQ2-AS1
0.925 20 63445322 missense variant G/A;C snv 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs531163149
MTSS2
1.000 16 70664131 missense variant G/A;C snv 1.3E-04; 4.1E-06 4
rs587777357
TUBB
0.925 6 30724263 missense variant G/A snv 4
rs746882521
PIGN
0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05 4