Disease: Delayed speech and language development
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs147030232
BBS2
0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 8
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv 8
rs1057518781
MCOLN1
0.925 0.120 19 7527961 splice donor variant G/A;C snv 7
rs1057518782
LOC105372261 ; MCOLN1
0.925 0.120 19 7526579 stop gained C/G;T snv 7
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
rs1554123982
CAMK2A
0.925 0.040 5 150273157 splice acceptor variant C/- delins 7
rs1554385305
CAMK2B
0.925 0.040 7 44241784 splice acceptor variant C/T snv 7