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: rs781442277
rs781442277
CENPO ; PTRHD1 ; LOC105369164
3 1.000 0.040 2 24793223 missense variant C/T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs398122917
rs398122917
CLIC2
5 0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04 0.010 1.000 1 2012 2012
dbSNP: rs761249181
rs761249181
COL9A1
1 6 70252139 missense variant C/T snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs930549037
rs930549037
COL9A2
1 1 40301333 missense variant C/T snv 4.4E-05 2.8E-05 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: rs141228574
rs141228574
COQ4
2 1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03 0.010 1.000 1 2017 2017
dbSNP: rs587777623
rs587777623
DEAF1
8 0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs374854258
rs374854258
DGCR2
1 22 19065049 missense variant G/A snv 2.0E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs749451963
rs749451963
DGCR2
1 22 19064948 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
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: 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: rs3758653
rs3758653
DRD4
2 1.000 0.200 11 636399 upstream gene variant T/C snv 0.20 0.010 1.000 1 2012 2012
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: rs1287153074
rs1287153074
FOXP1
2 1.000 0.080 3 70977021 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1294642759
rs1294642759
FOXP1
2 1.000 0.080 3 70959372 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs587777308
rs587777308
GABRA1
14 0.763 0.040 5 161873196 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs747138999
rs747138999
GABRA1
2 1.000 0.040 5 161895753 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs132630328
rs132630328
GK
3 0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 0.010 1.000 1 1996 1996
dbSNP: rs1372862248
rs1372862248
GPT2
2 1.000 0.120 16 46926991 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs672601376
rs672601376
GRIN2B ; LOC105369668
3 0.925 0.040 12 13608760 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs672601378
rs672601378
GRIN2B ; LOC105369668
4 0.882 0.040 12 13615149 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs536289169
rs536289169
GSTM1 ; GSTM2
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs1171889657
rs1171889657
HADHB
1 2 26273656 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs758252808
rs758252808
HNMT
2 1.000 2 137970206 missense variant G/A snv 4.1E-06 0.010 1.000 1 2017 2017