Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins 3
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 9
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1553632357
CTNNB1
0.882 0.120 3 41236421 stop gained G/T snv 5
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1554817910
ZMIZ1
1.000 10 79216266 missense variant A/G snv 4
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11