Disease: Severe intellectual disability
Source: INFERRED ×
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
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 35
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 8
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 4