Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs878853152
rs878853152
CUL4B
1 1.000 0.200 X 120547154 frameshift variant TG/- delins 0.700 0
dbSNP: rs878853151
rs878853151
KDM5C
1 1.000 0.200 X 53211601 frameshift variant -/A delins 0.700 0
dbSNP: rs878853149
rs878853149
TCF4
2 0.925 0.240 18 55350388 stop gained G/A snv 0.700 0
dbSNP: rs878853148
rs878853148
PHF8
1 1.000 0.200 X 54002150 splice region variant C/G snv 0.700 0
dbSNP: rs878853147
rs878853147
NLGN3
3 0.925 0.200 X 71169399 missense variant C/T snv 0.700 0
dbSNP: rs878853146
rs878853146
IL1RAPL1
1 1.000 0.200 X 29917576 frameshift variant TTGGGAAAGT/- delins 0.700 0
dbSNP: rs878853145
rs878853145
SLC35A2 ; PQBP1
1 1.000 0.200 X 48903017 missense variant C/T snv 0.700 0
dbSNP: rs878853144
rs878853144
IQSEC2
1 1.000 0.200 X 53239213 stop gained G/A snv 0.700 0
dbSNP: rs878853143
rs878853143
GRIN1
2 0.925 0.200 9 137162209 missense variant C/G;T snv 0.700 0
dbSNP: rs878853142
rs878853142
RAI1
1 1.000 0.200 17 17795278 frameshift variant GGCAT/- delins 0.700 0
dbSNP: rs878853141
rs878853141
KDM5C ; MIR6894
1 1.000 0.200 X 53199068 missense variant C/G snv 0.700 0
dbSNP: rs869312674
rs869312674
SYNGAP1
2 0.925 0.200 6 33446569 splice region variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs869025287
rs869025287
MED13L
2 0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 0.700 0
dbSNP: rs864309503
rs864309503
MORC2
5 0.882 0.200 22 30941503 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs796053290
rs796053290
SLC9A6
2 0.925 0.280 X 135998095 splice region variant TTTTA/- delins 0.700 0
dbSNP: rs794729221
rs794729221
SLC2A1
2 0.925 0.240 1 42929736 stop gained G/A snv 0.700 0
dbSNP: rs765556214
rs765556214
GRIA4
1 1.000 0.200 11 105933765 missense variant G/A;C snv 1.6E-05 4.9E-05 0.700 0
dbSNP: rs762578331
rs762578331
UPF3B
3 0.925 0.200 X 119837939 missense variant G/A;T snv 8.2E-05; 5.5E-06 0.010 1.000 1 2010 2010
dbSNP: rs752306
rs752306
DRD4
3 0.925 0.200 11 637622 intron variant C/T snv 6.4E-02 4.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs749457448
rs749457448
DLG3 ; DLG3-AS1
2 1.000 0.200 X 70452622 start lost A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs745986648
rs745986648
SGO1 ; SGO1-AS1
2 1.000 0.200 3 20174431 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs724159950
rs724159950
DYRK1A ; LOC105372797
6 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 0.700 0
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
15 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
dbSNP: rs723744
rs723744
TTR
3 0.925 0.200 18 31592513 intron variant G/T snv 0.38 0.010 1.000 1 2006 2006