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
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 5
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 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
rs121918364
SRPX2
0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 1
rs121918368
CRBN ; TRNT1
0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 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
rs121965020
SLC26A1 ; IDUA
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 4
rs122445108
ATRX
0.807 0.320 X 77717155 stop gained G/A snv 5
rs122455132
SLC16A2
0.925 0.200 X 74529232 missense variant T/C snv 2
rs122468181
UPF3B
0.925 0.200 X 119837771 stop gained G/A;T 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
rs1555050165
GRIA4
0.925 0.200 11 105926814 missense variant A/G snv 2
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
rs1555455456
PDIA3
1.000 0.200 15 43753826 missense variant G/A snv 1
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs1555910048
SHANK3
1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins 1
rs1562928193
KMT2E
1.000 0.200 7 105102045 frameshift variant -/TA delins 1
rs1569146649
TCF20
1.000 0.200 22 42211545 frameshift variant -/T delins 2
rs1569161831
CNKSR2
1.000 0.200 X 21426661 splice donor variant G/A snv 1
rs199469705
TECR
0.925 0.200 19 14564841 missense variant C/T snv 1