Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878853151
KDM5C
1.000 0.200 X 53211601 frameshift variant -/A delins 1
rs1555910048
SHANK3
1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins 1
rs1569146649
TCF20
1.000 0.200 22 42211545 frameshift variant -/T delins 2
rs1562928193
KMT2E
1.000 0.200 7 105102045 frameshift variant -/TA delins 1
rs121918364
SRPX2
0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 1
rs1555050165
GRIA4
0.925 0.200 11 105926814 missense variant A/G snv 2
rs121918524
PHF8
0.827 0.200 X 54011232 missense variant A/G snv 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
rs121434613
PAK3
0.882 0.240 X 111194402 missense variant C/A snv 1
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 1
rs45517305
TSC2
0.851 0.240 16 2081646 stop gained C/A;T snv 1
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 5
rs1555050171
GRIA4
0.925 0.200 11 105926821 missense variant C/G snv 1
rs878853141
KDM5C ; MIR6894
1.000 0.200 X 53199068 missense variant C/G snv 1
rs878853148
PHF8
1.000 0.200 X 54002150 splice region variant C/G snv 1
rs878853143
GRIN1
0.925 0.200 9 137162209 missense variant C/G;T snv 1
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs121965020
SLC26A1 ; IDUA
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 4
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 1
rs1555050174
GRIA4
0.925 0.200 11 105926824 missense variant C/T snv 1
rs199469705
TECR
0.925 0.200 19 14564841 missense variant C/T snv 1
rs587777696
SLC1A1 ; SPATA6L
0.925 0.280 9 4585316 missense variant C/T snv 4.0E-06 1
rs878853145
PQBP1 ; SLC35A2
1.000 0.200 X 48903017 missense variant C/T snv 1