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: rs878853143
rs878853143
GRIN1
2 0.925 0.200 9 137162209 missense variant C/G;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: rs878853145
rs878853145
SLC35A2 ; PQBP1
1 1.000 0.200 X 48903017 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: rs878853147
rs878853147
NLGN3
3 0.925 0.200 X 71169399 missense variant C/T 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: rs878853149
rs878853149
TCF4
2 0.925 0.240 18 55350388 stop gained G/A snv 0.700 0
dbSNP: rs878853151
rs878853151
KDM5C
1 1.000 0.200 X 53211601 frameshift variant -/A delins 0.700 0
dbSNP: rs878853152
rs878853152
CUL4B
1 1.000 0.200 X 120547154 frameshift variant TG/- delins 0.700 0
dbSNP: rs372949028
rs372949028
TANGO2
13 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
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: rs10410239
rs10410239
CC2D1A
2 1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 0.010 1.000 1 2012 2012
dbSNP: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs113994097
rs113994097
POLG
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2010 2010
dbSNP: rs118203933
rs118203933
CA2
6 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs121434613
rs121434613
PAK3
4 0.882 0.240 X 111194402 missense variant C/A snv 0.010 1.000 1 2003 2003
dbSNP: rs121434614
rs121434614
PAK3
3 0.925 0.200 X 111196570 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121918364
rs121918364
SRPX2
5 0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs121918523
rs121918523
PHF8
3 0.925 0.200 X 54016662 stop gained T/A snv 0.010 1.000 1 2007 2007
dbSNP: rs121918524
rs121918524
PHF8
6 0.827 0.200 X 54011232 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
6 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.010 1.000 1 2006 2006
dbSNP: rs122460151
rs122460151
ARSL
5 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs122468181
rs122468181
UPF3B
3 0.925 0.200 X 119837771 stop gained G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1249144069
rs1249144069
PITRM1 ; PITRM1-AS1
5 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016