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
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs398122965
TBC1D24
0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05 13
rs398122967
TBC1D24
0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05 12
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 9
rs398122966
TBC1D24
0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06 9
rs398122968
TBC1D24
0.882 0.280 16 2499425 splice region variant G/A snv 9
rs747821285
TBC1D24
0.882 0.280 16 2496476 missense variant G/A snv 4.1E-06 9
rs760474458
TBC1D24
0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06 9
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv 9
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 7
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv 6
rs587776508
C12orf65 ; CDK2AP1
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 4
rs1555728965
NOTCH3
0.925 0.080 19 15188277 missense variant A/C snv 4
rs312262830
OFD1
0.882 0.160 X 13739017 frameshift variant GAAA/- delins 4
rs397515352
CLN6
0.925 0.120 15 68211844 frameshift variant -/G delins 2.4E-05; 2.8E-05 3
rs1060499737
DHX37
12 124968903 missense variant G/T snv 3
rs199422125
MCPH1
0.925 0.120 8 6436147 frameshift variant -/A delins 3
rs587777819
POMT1
0.925 0.120 9 131523038 frameshift variant TC/-;TCTC delins 7.0E-06 3
rs1557714302
PPT1
0.925 0.120 1 40092486 stop gained A/C snv 3
rs121918104
PSAP
0.925 0.120 10 71825892 missense variant C/G snv 3
rs72547568
ALDH3A2
1.000 0.120 17 19657797 missense variant G/A snv 4.0E-06 2.1E-05 2
rs1557966012
ASPM
1.000 0.120 1 197143564 frameshift variant C/- del 2