Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs122468181
UPF3B
0.925 0.200 X 119837771 stop gained G/A;T snv 3
rs1282813621
UPF3B
0.925 0.200 X 119837956 missense variant C/T snv 4.8E-05 3
rs140032597
UPF3B
0.925 0.200 X 119837923 missense variant C/T snv 6.6E-05 1.1E-04 3
rs762578331
UPF3B
0.925 0.200 X 119837939 missense variant G/A;T snv 8.2E-05; 5.5E-06 3
rs255012 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 2
rs10410239
CC2D1A
1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 2
rs6511901
CC2D1A
1.000 0.200 19 13916839 intron variant C/T snv 0.39 2
rs141228574
COQ4
1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03 2
rs225010
DIO2
1.000 0.200 14 80205936 intron variant C/T snv 0.51 2
rs225012
DIO2
1.000 0.200 14 80204392 intron variant A/C;G snv 0.51 2
rs749457448
DLG3 ; DLG3-AS1
1.000 0.200 X 70452622 start lost A/G snv 2
rs3758653
DRD4
1.000 0.200 11 636399 upstream gene variant T/C snv 0.20 2
rs1555050158
GRIA4
0.925 0.200 11 105926808 missense variant A/T snv 2
rs1555050171
GRIA4
0.925 0.200 11 105926821 missense variant C/G snv 2
rs1555050174
GRIA4
0.925 0.200 11 105926824 missense variant C/T snv 2
rs878853143
GRIN1
0.925 0.200 9 137162209 missense variant C/G;T snv 2
rs397515486
HCFC1
0.925 0.200 X 153964702 missense variant G/A snv 2
rs267608383
MECP2
1.000 0.200 X 154030643 frameshift variant TCGGGCTC/- delins 5.8E-06 2
rs267608402
MECP2
1.000 0.200 X 154030650 missense variant G/A snv 2
rs61753016
MECP2
1.000 0.200 X 154030614 missense variant G/A snv 6.8E-05 3.9E-05 2
rs869025287
MED13L
0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 2
rs1427146168
NUP214
1.000 0.200 9 131140671 stop gained C/T snv 2
rs1335072648
RAD21
1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06 2
rs745986648
SGO1-AS1 ; SGO1
1.000 0.200 3 20174431 missense variant C/T snv 1.2E-05 7.0E-06 2
rs122455132
SLC16A2
0.925 0.200 X 74529232 missense variant T/C snv 2