Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
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
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs1554691658
PTCH1
0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 11
rs376103091
EARS2
0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 10
rs1553553086
FARSB
0.827 0.280 2 222623699 missense variant C/T snv 9
rs1555696625
NFIX
0.851 0.360 19 13025409 missense variant G/A snv 7
rs1057519334
NPR2
0.925 0.040 9 35802550 frameshift variant C/- del 7
rs757788894
CLCN7
0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 6
rs67394386
COL1A1
1.000 0.120 17 50188131 missense variant C/A;T snv 3