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: rs12972991
rs12972991
1 1.000 0.080 19 39241107 upstream gene variant A/C snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs1470452230
rs1470452230
2 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs16851720
rs16851720
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs6051702
rs6051702
3 0.882 0.120 20 3271278 intron variant A/C snv 0.19 0.010 1.000 1 2020 2020
dbSNP: rs7270101
rs7270101
10 0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02 0.800 1.000 1 2010 2010
dbSNP: rs4969170
rs4969170
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.010 1.000 1 2013 2013
dbSNP: rs8878
rs8878
5 0.827 0.280 4 76021147 3 prime UTR variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2011 2017
dbSNP: rs11697186
rs11697186
1 1.000 0.080 20 3204477 intron variant A/C;T snv 7.0E-02 0.800 1.000 1 2011 2011
dbSNP: rs12952093
rs12952093
1 1.000 0.080 17 78367559 intron variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.870 1.000 9 2009 2017
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 2011
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs10789491
rs10789491
1 1.000 0.080 1 46713638 intron variant A/G snv 0.80 0.800 1.000 1 2012 2012
dbSNP: rs11506105
rs11506105
4 0.851 0.160 7 55152484 intron variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1993116
rs1993116
8 0.827 0.200 11 14888688 intron variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2009 2009
dbSNP: rs2779180
rs2779180
1 1.000 0.080 19 4841139 intron variant A/G snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs4803223
rs4803223
1 1.000 0.080 19 39255579 upstream gene variant A/G snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs4969168
rs4969168
7 0.790 0.480 17 78357712 3 prime UTR variant A/G snv 0.71 0.010 1.000 1 2013 2013
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2009 2009
dbSNP: rs758564400
rs758564400
REN
5 0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009