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: rs714830
rs714830
5 0.827 0.120 6 20624151 intron variant A/C;G snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs7195296
rs7195296
5 0.827 0.120 16 11655918 intergenic variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1799977
rs1799977
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.030 0.667 3 2004 2009
dbSNP: rs4149570
rs4149570
11 0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv 0.020 1.000 2 2014 2014
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4672505
rs4672505
5 0.827 0.120 2 62333197 regulatory region variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.080 0.875 8 2005 2018
dbSNP: rs1728785
rs1728785
2 0.925 0.120 16 68557327 intron variant A/C;T snv 0.77; 7.8E-06 0.810 1.000 4 2009 2017
dbSNP: rs17855750
rs17855750
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1792658
rs1792658
2 0.925 0.120 18 47856234 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs2243188
rs2243188
4 0.851 0.200 1 206841127 intron variant A/C;T snv 0.69 0.010 1.000 1 2011 2011
dbSNP: rs9138
rs9138
12 0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.100 0.833 12 2007 2019
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.050 1.000 5 2009 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 1999 2016
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.730 1.000 4 2011 2016
dbSNP: rs2816958
rs2816958
6 0.827 0.120 1 200132792 intron variant A/G snv 0.84 0.800 1.000 4 2012 2017
dbSNP: rs7608910
rs7608910
6 0.827 0.120 2 60977721 intron variant A/G snv 0.37 0.800 1.000 4 2011 2017
dbSNP: rs1893217
rs1893217
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.720 1.000 3 2014 2016
dbSNP: rs28374715
rs28374715
1 1.000 0.040 15 41271752 intron variant A/G snv 0.25 0.800 1.000 3 2012 2017
dbSNP: rs5771069
rs5771069
2 0.925 0.120 22 49997051 missense variant A/G snv 0.56 0.55 0.800 1.000 3 2010 2017
dbSNP: rs744166
rs744166
22 0.689 0.560 17 42362183 intron variant A/G snv 0.48 0.030 1.000 3 2012 2014
dbSNP: rs10761659
rs10761659
3 0.925 0.040 10 62685804 intron variant A/G snv 0.43 0.700 1.000 2 2015 2017
dbSNP: rs1239681664
rs1239681664
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.020 1.000 2 2006 2007