Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 17
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv 14
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 34
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
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
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 19
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 15
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv 9