Disease: Severe intellectual disability
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs863225264
MTOR
0.827 0.240 1 11130747 missense variant C/T snv 6
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5
rs200115000
CAMK2B
1.000 0.160 7 44220165 missense variant C/A;G;T snv 2.6E-04; 5.8E-05 2