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: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.830 1.000 5 2009 2016
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.810 1.000 4 2010 2018
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: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.040 1.000 4 2014 2020
dbSNP: rs240993
rs240993
1 1.000 0.040 6 111352511 intron variant T/A;C snv 0.800 1.000 3 2010 2015
dbSNP: rs281875215
rs281875215
6 0.807 0.160 17 80182790 missense variant G/A snv 8.0E-06 0.030 1.000 3 2013 2019
dbSNP: rs10036748
rs10036748
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.710 1.000 2 2015 2019
dbSNP: rs10484879
rs10484879
5 0.827 0.160 6 52187159 intron variant G/A;T snv 0.020 1.000 2 2015 2018
dbSNP: rs11230563
rs11230563
8 0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31 0.710 1.000 2 2016 2018
dbSNP: rs113994136
rs113994136
7 0.827 0.240 17 42329642 missense variant C/A;T snv 0.020 1.000 2 2011 2013
dbSNP: rs12188300
rs12188300
6 0.807 0.120 5 159402519 intron variant A/G;T snv 0.800 1.000 2 2012 2016
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.020 1.000 2 2014 2015
dbSNP: rs1576
rs1576
1 1.000 0.040 6 31142614 missense variant G/A;C snv 4.0E-06; 0.28 0.710 1.000 2 2011 2019
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.710 1.000 2 2006 2016
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.020 1.000 2 2011 2012
dbSNP: rs26653
rs26653
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.020 0.500 2 2013 2018
dbSNP: rs281875214
rs281875214
7 0.790 0.160 17 80183976 missense variant A/C snv 0.020 1.000 2 2016 2019
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.710 1.000 2 2016 2016
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: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 0.500 2 2014 2017
dbSNP: rs1001007
rs1001007
5 0.827 0.120 3 46387167 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1002212321
rs1002212321
1 1.000 0.040 8 103931366 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1004234
rs1004234
5 0.827 0.120 5 132421409 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 < 0.001 1 2014 2014