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: rs237889
rs237889
CAV3 ; OXTR
2 0.925 0.040 3 8760797 intron variant T/C snv 0.71 0.020 1.000 2 2008 2016
dbSNP: rs237897
rs237897
CAV3 ; OXTR
1 1.000 0.040 3 8766599 intron variant A/C;G snv 0.020 1.000 2 2008 2016
dbSNP: rs2857766
rs2857766
MOG
4 0.882 0.120 6 29666226 missense variant G/C snv 0.22 0.19 0.020 1.000 2 2009 2011
dbSNP: rs3735653
rs3735653
EN2
2 0.925 0.040 7 155458738 missense variant C/G;T snv 0.54 0.020 1.000 2 2004 2010
dbSNP: rs397514679
rs397514679
SYN1
9 0.790 0.200 X 47574321 stop gained G/A snv 0.020 1.000 2 2015 2018
dbSNP: rs4141463
rs4141463
MACROD2
3 0.925 0.040 20 14766825 intron variant T/C snv 0.50 0.020 1.000 2 2011 2019
dbSNP: rs4446909
rs4446909
ASMT
2 0.925 0.040 Y 1614890 upstream gene variant G/A snv 0.020 1.000 2 2008 2013
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.020 1.000 2 2015 2018
dbSNP: rs577802449
rs577802449
SLC6A3
1 1.000 0.040 5 1414780 missense variant G/A snv 2.4E-05 2.8E-05 0.020 1.000 2 2013 2019
dbSNP: rs5989681
rs5989681
ASMT
1 1.000 0.040 Y 1614999 upstream gene variant G/A;C snv 0.020 1.000 2 2008 2013
dbSNP: rs6311
rs6311
HTR2A
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.020 1.000 2 2014 2014
dbSNP: rs6314
rs6314
HTR2A
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.020 1.000 2 2014 2014
dbSNP: rs6782011
rs6782011
GRM7
7 0.807 0.120 3 7457960 intron variant C/T snv 0.52 0.020 1.000 2 2013 2016
dbSNP: rs6824295
rs6824295
STX18-AS1
6 0.851 0.120 4 4612553 intron variant C/T snv 0.20 0.020 1.000 2 2014 2016
dbSNP: rs779867
rs779867
GRM7
9 0.776 0.120 3 7442784 intron variant T/C;G snv 0.020 1.000 2 2013 2016
dbSNP: rs10230087
rs10230087
FOXP2
2 1.000 0.040 7 114614352 intron variant G/A snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs1026306398
rs1026306398
EN2
1 1.000 0.040 7 155458802 missense variant C/A;G;T snv 3.0E-04; 7.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs1033810883
rs1033810883
WNT1 ; WNT10B
1 1.000 0.040 12 48979625 missense variant A/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs10418707
rs10418707
DNMT1
1 1.000 0.040 19 10145541 intron variant G/A;T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10423341
rs10423341
DNMT1
1 1.000 0.040 19 10156590 intron variant C/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1049346
rs1049346
GLO1
3 0.882 0.080 6 38703061 5 prime UTR variant G/A snv 0.50 0.54 0.010 1.000 1 2015 2015
dbSNP: rs10497655
rs10497655
ZNF804A ; LOC105373780
2 1.000 0.040 2 184597314 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs10498676
rs10498676
ELOVL2
3 0.925 0.040 6 11026766 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs1051312
rs1051312
SNAP25 ; SNAP25-AS1
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2017 2017