Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199469705
TECR
0.925 0.200 19 14564841 missense variant C/T snv 3
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
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 6
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs165656
COMT
0.925 0.200 22 19961340 intron variant G/A;C;T snv 5
rs864309503
MORC2
0.882 0.200 22 30941503 missense variant G/A snv 5
rs1569146649
TCF20
1.000 0.200 22 42211545 frameshift variant -/T delins 2
rs1555910048
SHANK3
1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins 1
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 17
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
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
rs61748420
MECP2
0.851 0.200 X 154031329 missense variant G/A;T snv 5
rs121434613
PAK3
0.882 0.240 X 111194402 missense variant C/A 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