Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 49
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 13
rs188675529
CENPT ; THAP11
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 11
rs387906692
FAM20A ; PRKAR1A
0.752 0.480 17 68530405 stop gained C/T snv 11
rs1555570110
MPDU1
0.827 0.240 17 7586766 missense variant A/C snv 9
rs1555789019
TCF4
0.882 0.320 18 55269829 splice donor variant ACCCAT/GGGAC delins 5