Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894743
ARX
0.807 0.200 X 25012937 missense variant G/A snv 1
rs587776690
ATR
0.882 0.280 3 142556439 synonymous variant T/C snv 1
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 1
rs1569161831
CNKSR2
1.000 0.200 X 21426661 splice donor variant G/A snv 1
rs121918368
CRBN ; TRNT1
0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 1
rs878853152
CUL4B
1.000 0.200 X 120547154 frameshift variant TG/- delins 1
rs132630328
GK
0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 1
rs1555050158
GRIA4
0.925 0.200 11 105926808 missense variant A/T snv 1
rs1555050171
GRIA4
0.925 0.200 11 105926821 missense variant C/G snv 1
rs1555050174
GRIA4
0.925 0.200 11 105926824 missense variant C/T snv 1
rs765556214
GRIA4
1.000 0.200 11 105933765 missense variant G/A;C snv 1.6E-05 4.9E-05 1
rs878853143
GRIN1
0.925 0.200 9 137162209 missense variant C/G;T snv 1
rs878853146
IL1RAPL1
1.000 0.200 X 29917576 frameshift variant TTGGGAAAGT/- delins 1
rs878853144
IQSEC2
1.000 0.200 X 53239213 stop gained G/A snv 1
rs878853151
KDM5C
1.000 0.200 X 53211601 frameshift variant -/A delins 1
rs878853141
KDM5C ; MIR6894
1.000 0.200 X 53199068 missense variant C/G snv 1
rs1562928193
KMT2E
1.000 0.200 7 105102045 frameshift variant -/TA delins 1
rs61748392
MECP2
0.925 0.200 X 154031418 missense variant T/C snv 1
rs878853147
NLGN3
0.925 0.200 X 71169399 missense variant C/T snv 1
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 1
rs121434613
PAK3
0.882 0.240 X 111194402 missense variant C/A snv 1
rs121434614
PAK3
0.925 0.200 X 111196570 missense variant G/C snv 1
rs1555455456
PDIA3
1.000 0.200 15 43753826 missense variant G/A snv 1
rs121918523
PHF8
0.925 0.200 X 54016662 stop gained T/A snv 1
rs121918524
PHF8
0.827 0.200 X 54011232 missense variant A/G snv 1