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: rs1476413
rs1476413
MTHFR
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 1.000 1 2011 2011
dbSNP: rs165656
rs165656
COMT
5 0.925 0.200 22 19961340 intron variant G/A;C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs225010
rs225010
DIO2
2 1.000 0.200 14 80205936 intron variant C/T snv 0.51 0.010 1.000 1 2004 2004
dbSNP: rs225012
rs225012
DIO2
2 1.000 0.200 14 80204392 intron variant A/C;G snv 0.51 0.010 1.000 1 2004 2004
dbSNP: rs6511901
rs6511901
CC2D1A
2 1.000 0.200 19 13916839 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs6530893
rs6530893
TUSC3
2 1.000 0.200 8 15671068 intron variant T/C snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs6994908
rs6994908
TUSC3
2 1.000 0.200 8 15674943 intron variant T/C snv 0.32 0.010 1.000 1 2015 2015
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
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: rs255012
rs255012 		2 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs121918368
rs121918368
TRNT1 ; CRBN
3 0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 0.020 1.000 2 2008 2013
dbSNP: rs121918523
rs121918523
PHF8
3 0.925 0.200 X 54016662 stop gained T/A snv 0.010 1.000 1 2007 2007
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: rs122468181
rs122468181
UPF3B
3 0.925 0.200 X 119837771 stop gained G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1427146168
rs1427146168
NUP214
2 1.000 0.200 9 131140671 stop gained C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs45517305
rs45517305
TSC2
5 0.851 0.240 16 2081646 stop gained C/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs122445108
rs122445108
ATRX
7 0.807 0.320 X 77717155 stop gained G/A snv 0.700 0
dbSNP: rs61748421
rs61748421
MECP2
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.700 0
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
15 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
dbSNP: rs794729221
rs794729221
SLC2A1
2 0.925 0.240 1 42929736 stop gained G/A snv 0.700 0
dbSNP: rs878853144
rs878853144
IQSEC2
1 1.000 0.200 X 53239213 stop gained G/A snv 0.700 0
dbSNP: rs878853149
rs878853149
TCF4
2 0.925 0.240 18 55350388 stop gained G/A snv 0.700 0
dbSNP: rs28934908
rs28934908
MECP2
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.030 1.000 3 2002 2005
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2008 2008
dbSNP: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2009 2009