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
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs864309488
GMNN
0.776 0.440 6 24777296 missense variant A/G snv 14
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs1555570093
MPDU1
0.807 0.280 17 7586699 missense variant G/A snv 12
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 12