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: rs28364997
rs28364997
9 0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04 0.030 1.000 3 2014 2018
dbSNP: rs3796863
rs3796863
8 0.790 0.160 4 15848363 intron variant G/T snv 0.41 0.030 1.000 3 2010 2012
dbSNP: rs4307059
rs4307059
5 0.882 0.080 5 25967594 intron variant T/A;C snv 0.030 1.000 3 2010 2012
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2013 2018
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2009 2017
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 1.000 3 2009 2017
dbSNP: rs1023159
rs1023159
1 1.000 0.040 21 45546266 intron variant G/A snv 0.34 0.020 1.000 2 2016 2017
dbSNP: rs1042778
rs1042778
3 0.925 0.040 3 8752859 3 prime UTR variant G/A;C;T snv 0.020 1.000 2 2018 2019
dbSNP: rs10951154
rs10951154
2 0.925 0.040 7 27095695 missense variant C/A;G;T snv 0.76 0.020 0.500 2 2011 2012
dbSNP: rs112795301
rs112795301
13 0.776 0.160 3 70972634 stop gained G/A snv 0.020 1.000 2 2010 2019
dbSNP: rs16835979
rs16835979
6 0.851 0.120 4 4633549 intron variant C/A snv 0.20 0.020 1.000 2 2014 2016
dbSNP: rs1800561
rs1800561
7 0.807 0.240 4 15824935 missense variant C/A;T snv 8.0E-06; 4.4E-04 0.020 1.000 2 2010 2012
dbSNP: rs1801198
rs1801198
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.020 1.000 2 2018 2019
dbSNP: rs237889
rs237889
2 0.925 0.040 3 8760797 intron variant T/C snv 0.71 0.020 1.000 2 2008 2016
dbSNP: rs237897
rs237897
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
9 0.790 0.200 X 47574321 stop gained G/A snv 0.020 1.000 2 2015 2018
dbSNP: rs4141463
rs4141463
3 0.925 0.040 20 14766825 intron variant T/C snv 0.50 0.020 1.000 2 2011 2019
dbSNP: rs4446909
rs4446909
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
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
1 1.000 0.040 Y 1614999 upstream gene variant G/A;C snv 0.020 1.000 2 2008 2013
dbSNP: rs6311
rs6311
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
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