Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs398122965
TBC1D24
0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05 13
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
rs1555728965
NOTCH3
0.925 0.080 19 15188277 missense variant A/C snv 4
rs1060499737
DHX37
12 124968903 missense variant G/T snv 3
rs121918104
PSAP
0.925 0.120 10 71825892 missense variant C/G snv 3
rs1557714302
PPT1
0.925 0.120 1 40092486 stop gained A/C snv 3
rs1057517295
VPS13B
1.000 0.320 8 99096433 splice donor variant G/A;T snv 2
rs1057521927
PRUNE1
1.000 1 151017860 missense variant G/A snv 2
rs1060499734
VARS1
1.000 6 31780935 missense variant G/A snv 2
rs1060499735
LOC105374339 ; CPLX1
1.000 4 786584 stop gained C/A snv 2
rs1060499763
PIGN
1.000 18 62140447 missense variant A/C snv 7.0E-06 2
rs1445957469
TMEM237
1.000 2 201639047 splice acceptor variant T/C snv 2
rs1465414886
CEP290
1.000 0.200 12 88118660 stop gained G/A;C snv 2
rs1482303814
CPLANE1
1.000 5 37125344 stop gained C/T snv 7.0E-06 2
rs1559122277
BBS5
1.000 2 169488115 splice donor variant G/T snv 2
rs1562374476
SNX14
1.000 6 85572333 stop gained A/T snv 2