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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 0.857 14 2008 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2009 2018
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.830 1.000 5 2009 2016
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 0.800 5 2008 2016
dbSNP: rs4112788
rs4112788
4 0.851 0.120 1 152578800 downstream gene variant A/G;T snv 0.820 1.000 4 2009 2011
dbSNP: rs7530511
rs7530511
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.040 1.000 4 2008 2014
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.020 1.000 2 2015 2015
dbSNP: rs10794648
rs10794648
1 1.000 0.040 1 24191716 upstream gene variant T/C snv 0.68 0.700 1.000 2 2015 2015
dbSNP: rs11805303
rs11805303
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.020 0.500 2 2011 2016
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 < 0.001 2 2017 2019
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2014 2018
dbSNP: rs4649203
rs4649203
4 0.851 0.160 1 24193430 intergenic variant G/A snv 0.61 0.810 1.000 2 2010 2013
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.020 0.500 2 2008 2012
dbSNP: rs6679677
rs6679677
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.710 1.000 2 2015 2017
dbSNP: rs7552167
rs7552167
6 0.807 0.120 1 24192153 upstream gene variant A/G snv 0.87 0.800 1.000 2 2012 2016
dbSNP: rs10489628
rs10489628
1 1.000 0.040 1 67238424 intron variant G/A snv 0.43 0.010 1.000 1 2013 2013
dbSNP: rs10789229
rs10789229
1 1.000 0.040 1 67239891 intron variant C/T snv 0.62 0.010 1.000 1 2013 2013
dbSNP: rs10789285
rs10789285
2 1.000 0.040 1 69322799 intergenic variant T/G snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs10800314
rs10800314
5 0.827 0.120 1 161502999 upstream gene variant C/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs10888501
rs10888501
1 1.000 0.040 1 152565478 downstream gene variant G/A snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs10888503
rs10888503
2 0.925 0.080 1 152621073 downstream gene variant C/T snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs10889676
rs10889676
5 0.827 0.120 1 67256884 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 < 0.001 1 2016 2016
dbSNP: rs11121129
rs11121129
1 1.000 0.040 1 8208035 intron variant G/A snv 0.26 0.800 1.000 1 2012 2012
dbSNP: rs11209032
rs11209032
10 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 0.010 1.000 1 2009 2009