Disease: Mild Mental Retardation
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs1554642022
PUF60 ; SCRIB
0.851 0.200 8 143816981 stop gained G/A snv 8
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins 6
rs1565091862
KCNMA1-AS1 ; KCNMA1
0.925 0.160 10 76944829 missense variant T/C snv 4