Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 20
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs765243124
COL17A1
0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 14
rs1554944271
DEAF1
0.851 0.240 11 686925 missense variant C/G snv 14
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs1554504663
RHOBTB2
0.851 0.080 8 23007627 missense variant G/A snv 11
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins 10
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs1131691299
DDX3X
0.882 0.160 X 41341587 frameshift variant C/- del 9
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 9
rs386834055
VPS13B
0.925 0.320 8 99853469 frameshift variant -/A delins 9
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 8
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins 7