Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
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
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs4846049
C1orf167 ; MTHFR
0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 11
rs28934904
MECP2
0.776 0.200 X 154031431 missense variant G/A;C;T snv 9
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs104894743
ARX
0.807 0.200 X 25012937 missense variant G/A snv 7
rs122445108
ATRX
0.807 0.320 X 77717155 stop gained 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
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 6
rs1364926780
ABCB1
0.882 0.200 7 87550272 missense variant C/T snv 5
rs165656
COMT
0.925 0.200 22 19961340 intron variant G/A;C;T snv 5
rs45517305
TSC2
0.851 0.240 16 2081646 stop gained C/A;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
rs587776690
ATR
0.882 0.280 3 142556439 synonymous variant T/C snv 4
rs121434614
PAK3
0.925 0.200 X 111196570 missense variant G/C snv 3