Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 20
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 17
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 11
rs28934904
MECP2
0.776 0.200 X 154031431 missense variant G/A;C;T snv 9
rs104894743
ARX
0.807 0.200 X 25012937 missense variant G/A snv 7
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 6
rs121918524
PHF8
0.827 0.200 X 54011232 missense variant A/G snv 6
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs185645212
POLG
0.851 0.240 15 89323504 missense variant C/A;T snv 8.0E-06; 9.7E-04 6
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 6
rs121918364
SRPX2
0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 5
rs122460151
ARSL
0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 5
rs1249144069
PITRM1-AS1 ; PITRM1
0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 5
rs1364926780
ABCB1
0.882 0.200 7 87550272 missense variant C/T snv 5
rs61748420
MECP2
0.851 0.200 X 154031329 missense variant G/A;T snv 5
rs864309503
MORC2
0.882 0.200 22 30941503 missense variant G/A snv 5
rs121434613
PAK3
0.882 0.240 X 111194402 missense variant C/A snv 4
rs1404008939
ABCB1
0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 4
rs121434614
PAK3
0.925 0.200 X 111196570 missense variant G/C snv 3
rs1278838206
PCDH19
0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05 3
rs1282813621
UPF3B
0.925 0.200 X 119837956 missense variant C/T snv 4.8E-05 3
rs1301785134
ATR
0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 3