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: rs10954213
rs10954213
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.010 < 0.001 1 2018 2018
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs237025
rs237025
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 < 0.001 1 2005 2005
dbSNP: rs3807306
rs3807306
8 0.776 0.320 7 128940626 intron variant G/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2005 2015
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 0.500 2 2013 2015
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.090 0.889 9 2005 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2018
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2014 2018
dbSNP: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.020 1.000 2 2011 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2010
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2005 2015
dbSNP: rs1003706636
rs1003706636
1 1.000 0.120 1 247424639 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs10128264
rs10128264
1 1.000 0.120 10 79200216 intron variant T/C snv 0.64 0.700 1.000 1 2014 2014
dbSNP: rs1018981
rs1018981
1 1.000 0.120 7 41335525 intergenic variant C/A snv 3.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2009 2009
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs10431961
rs10431961
1 1.000 0.120 16 3050094 synonymous variant C/G;T snv 4.0E-06; 0.32 0.010 1.000 1 2015 2015
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 1.000 1 2009 2009
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2012 2012
dbSNP: rs10761744
rs10761744
1 1.000 0.120 10 63341266 intron variant C/G;T snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs10761745
rs10761745
3 0.882 0.240 10 63341311 intron variant G/C snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs10822050
rs10822050
14 0.724 0.240 10 62679011 downstream gene variant T/C snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs10919563
rs10919563
3 0.925 0.120 1 198731313 intron variant G/A snv 0.21 0.010 1.000 1 2017 2017