Disease: Mild Mental Retardation
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs777323132
CAPN3
0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 4