Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14
rs778139192
KIF7 ; TICRR
0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 14
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
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
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs727503030
ELN
0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05 6
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs797045141
HERC1
0.882 0.160 15 63696341 splice acceptor variant T/G snv 5
rs749203329
MLLT1
0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 7
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 29
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins 11
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv 9
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 15
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 9