Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569161831
CNKSR2
1.000 0.200 X 21426661 splice donor variant G/A snv 1
rs878853152
CUL4B
1.000 0.200 X 120547154 frameshift variant TG/- delins 1
rs765556214
GRIA4
1.000 0.200 11 105933765 missense variant G/A;C snv 1.6E-05 4.9E-05 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
rs1555455456
PDIA3
1.000 0.200 15 43753826 missense variant G/A snv 1
rs878853148
PHF8
1.000 0.200 X 54002150 splice region variant C/G snv 1
rs878853145
PQBP1 ; SLC35A2
1.000 0.200 X 48903017 missense variant C/T snv 1
rs878853142
RAI1
1.000 0.200 17 17795278 frameshift variant GGCAT/- delins 1
rs1555910048
SHANK3
1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins 1
rs255012 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 2
rs10410239
CC2D1A
1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 2
rs6511901
CC2D1A
1.000 0.200 19 13916839 intron variant C/T snv 0.39 2
rs141228574
COQ4
1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03 2
rs225010
DIO2
1.000 0.200 14 80205936 intron variant C/T snv 0.51 2
rs225012
DIO2
1.000 0.200 14 80204392 intron variant A/C;G snv 0.51 2
rs749457448
DLG3 ; DLG3-AS1
1.000 0.200 X 70452622 start lost A/G snv 2
rs3758653
DRD4
1.000 0.200 11 636399 upstream gene variant T/C snv 0.20 2
rs1555050158
GRIA4
0.925 0.200 11 105926808 missense variant A/T snv 2
rs1555050171
GRIA4
0.925 0.200 11 105926821 missense variant C/G snv 2
rs1555050174
GRIA4
0.925 0.200 11 105926824 missense variant C/T snv 2
rs878853143
GRIN1
0.925 0.200 9 137162209 missense variant C/G;T snv 2