Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 17
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 16
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 15
rs587783772
MTM1
0.776 0.200 X 150659665 missense variant G/A;T snv 14
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins 14
rs763028380
ABCC8
0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 12
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 9
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs1567690011
PRMT7
0.882 0.080 16 68337496 frameshift variant AG/- delins 9
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 9
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv 9