Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397515486
HCFC1
0.925 0.200 X 153964702 missense variant G/A snv 2
rs267608383
MECP2
1.000 0.200 X 154030643 frameshift variant TCGGGCTC/- delins 5.8E-06 2
rs267608402
MECP2
1.000 0.200 X 154030650 missense variant G/A snv 2
rs61753016
MECP2
1.000 0.200 X 154030614 missense variant G/A snv 6.8E-05 3.9E-05 2
rs869025287
MED13L
0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 2
rs1427146168
NUP214
1.000 0.200 9 131140671 stop gained C/T snv 2
rs1335072648
RAD21
1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06 2
rs745986648
SGO1-AS1 ; SGO1
1.000 0.200 3 20174431 missense variant C/T snv 1.2E-05 7.0E-06 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
rs1569146649
TCF20
1.000 0.200 22 42211545 frameshift variant -/T delins 2
rs398123561
TCF4
0.925 0.240 18 55350391 frameshift variant CTTT/- delins 2
rs878853149
TCF4
0.925 0.240 18 55350388 stop gained G/A snv 2
rs2276382
TTR
1.000 0.200 18 31598648 synonymous variant G/A snv 3.4E-03 1.1E-03 2
rs6530893
TUSC3
1.000 0.200 8 15671068 intron variant T/C snv 0.14 2
rs6994908
TUSC3
1.000 0.200 8 15674943 intron variant T/C snv 0.32 2
rs1471281484
WAPL
1.000 0.200 10 86500266 missense variant T/C snv 4.0E-06 2
rs1301785134
ATR
0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 3
rs121918368
CRBN ; TRNT1
0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 3
rs752306
DRD4
0.925 0.200 11 637622 intron variant C/T snv 6.4E-02 4.8E-02 3
rs132630328
GK
0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 3
rs1555050165
GRIA4
0.925 0.200 11 105926814 missense variant A/G snv 3
rs61748392
MECP2
0.925 0.200 X 154031418 missense variant T/C snv 3