Disease: Severe global developmental delay
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
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
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs1555652383
BPTF
0.807 0.160 17 67912720 frameshift variant TG/- delins 13
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs375761808
ARID1A
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 6
rs1554777480
STXBP1
9 127666235 missense variant C/G snv 2