Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554691658
PTCH1
0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 11
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs1555528356
ANKRD11
0.790 0.360 16 89282836 stop gained G/A snv 13
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 12
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 14
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 13
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins 9
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1556955128
HUWE1
0.882 0.240 X 53573795 missense variant A/C snv 3
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 18
rs1561964103
TFAP2B
0.882 0.080 6 50836108 frameshift variant G/- delins 7
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16