Disease: Mild Mental Retardation
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
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
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 17
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv 5
rs777323132
CAPN3
0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 4