Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516048
NSD1
0.925 0.200 5 177283796 missense variant A/T snv 8
rs1554642022
PUF60 ; SCRIB
0.851 0.200 8 143816981 stop gained G/A snv 8
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs786200963
CACNA1A
0.827 0.200 19 13371683 splice region variant C/T snv 6
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins 6
rs1060505029
TAF13
0.882 0.240 1 109066220 missense variant A/T snv 5
rs1555055028
LOC107984406 ; HEPACAM
0.882 0.160 11 124923996 missense variant G/A snv 5
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv 5
rs1060505030
TAF13
0.882 0.240 1 109075001 missense variant A/G;T snv 4
rs1239725461
SCAPER
0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06 4
rs1565091862
KCNMA1-AS1 ; KCNMA1
0.925 0.160 10 76944829 missense variant T/C snv 4
rs121917929
SCN1A-AS1 ; SCN1A
0.925 0.160 2 166046970 missense variant G/A;T snv 3
rs1556955128
HUWE1
0.882 0.240 X 53573795 missense variant A/C snv 3
rs1569149539
TCF20
0.925 0.160 22 42212712 stop gained G/C snv 3
rs794729664
PTEN
0.925 0.240 10 87952170 stop gained T/A;C;G snv 3
rs797044872
KCNC3
0.882 0.200 19 50323685 missense variant C/T snv 3
rs104894700
KCNC3
0.925 0.200 19 50323609 missense variant G/C;T snv 2
rs1569151204
TCF20
0.925 0.160 22 42213495 frameshift variant CA/- delins 2
rs202247813
GLRA1 ; LOC112267935
1.000 0.160 5 151855144 missense variant C/G snv 2
rs1429108797
ARHGEF9
1.000 0.160 X 63638143 missense variant T/C snv 1
rs770499406
ERCC8
0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06 4
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1246651989
CRB1
0.925 0.160 1 197435519 frameshift variant AG/- delins 4.0E-06 2
rs777323132
CAPN3
0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 4
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23