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
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
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
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
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
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
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
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16