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
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
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
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 6
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
rs165656
COMT
0.925 0.200 22 19961340 intron variant G/A;C;T snv 5
rs199516560
ABCB1
0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 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
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
rs121918523
PHF8
0.925 0.200 X 54016662 stop gained T/A snv 3
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
rs1555050165
GRIA4
0.925 0.200 11 105926814 missense variant A/G snv 3