Disease: Global developmental delay
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
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
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs147030232
BBS2
0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 8
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv 7
rs1554121875
CAMK2A
0.882 0.040 5 150250281 missense variant T/C snv 7
rs1554122129
CAMK2A
0.882 0.040 5 150252032 missense variant T/A snv 6
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs1554385305
CAMK2B
0.925 0.040 7 44241784 splice acceptor variant C/T snv 7
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37