Disease: Severe intellectual disability
Source: ALL
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
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13