Disease: Global developmental delay
Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs757511770
FMN2
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs1568507354
RYR1
0.827 0.200 19 38502879 splice acceptor variant G/A snv 6
rs794726827
SCN1A ; SCN1A-AS1
0.827 0.120 2 166054637 splice donor variant C/A;G;T snv 6
rs796052571
GRIN2B ; LOC105369668
0.851 0.040 12 13608755 missense variant C/T snv 6
rs81002885
BRCA2
0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 6
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 4