Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 17
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 17
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 16
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 15
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs886039814
WDR19
0.807 0.200 4 39218060 missense variant C/G snv 13
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12