Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs104893648
MYCN
0.882 0.320 2 15945883 missense variant G/A;T snv 4
rs1057516034
NIPBL
0.925 0.120 5 37052453 stop gained C/T snv 5
rs1057516037
HDAC8
0.925 X 72464626 protein altering variant TGGAG/AC delins 4
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5
rs1057518980
KIF11
0.925 0.120 10 92613446 frameshift variant ATAAATCAAT/- delins 3
rs1057519012
EP300
1.000 22 41147864 frameshift variant -/G delins 2
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv 7
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1060499740
CINP
14 102348559 stop lost A/C snv 3
rs1060499757
ASPM
1 197101677 frameshift variant CT/- delins 1
rs1060499758
ASPM
1 197094079 splice region variant C/T snv 1
rs1060499759
ATRX
1.000 X 77688879 missense variant A/T snv 2
rs1060499760
ATRX
1.000 X 77683580 missense variant G/A snv 2
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1064795945
ASPM
1.000 0.120 1 197102332 frameshift variant AAGT/- delins 5
rs1064796738
KIF11
1.000 0.240 10 92606655 stop gained C/T snv 5