Source: ALL
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 5
rs1404008939
ABCB1
0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 4
rs225012
DIO2
1.000 0.200 14 80204392 intron variant A/C;G snv 0.51 2
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121918524
PHF8
0.827 0.200 X 54011232 missense variant A/G snv 6
rs1555050165
GRIA4
0.925 0.200 11 105926814 missense variant A/G snv 3
rs749457448
DLG3 ; DLG3-AS1
1.000 0.200 X 70452622 start lost A/G snv 2
rs132630328
GK
0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 3
rs1555050158
GRIA4
0.925 0.200 11 105926808 missense variant A/T snv 2
rs121434613
PAK3
0.882 0.240 X 111194402 missense variant C/A snv 4
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 6
rs185645212
POLG
0.851 0.240 15 89323504 missense variant C/A;T snv 8.0E-06; 9.7E-04 6
rs45517305
TSC2
0.851 0.240 16 2081646 stop gained C/A;T snv 5
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs122460151
ARSL
0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 5
rs1555050171
GRIA4
0.925 0.200 11 105926821 missense variant C/G snv 2
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
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 20
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 10