Source: CURATED ×
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
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 14
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
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
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 6
rs122445108
ATRX
0.807 0.320 X 77717155 stop gained G/A snv 5
rs28934904
MECP2
0.776 0.200 X 154031431 missense variant G/A;C;T snv 5
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 5
rs121965020
SLC26A1 ; IDUA
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 4
rs1555050165
GRIA4
0.925 0.200 11 105926814 missense variant A/G snv 3
rs61748420
MECP2
0.851 0.200 X 154031329 missense variant G/A;T snv 3
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
rs869025287
MED13L
0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 2
rs864309503
MORC2
0.882 0.200 22 30941503 missense variant G/A snv 2
rs122455132
SLC16A2
0.925 0.200 X 74529232 missense variant T/C snv 2
rs794729221
SLC2A1
0.925 0.240 1 42929736 stop gained G/A snv 2
rs796053290
SLC9A6
0.925 0.280 X 135998095 splice region variant TTTTA/- delins 2
rs869312674
SYNGAP1
0.925 0.200 6 33446569 splice region variant G/A;C snv 4.0E-06 2