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: rs11174202
rs11174202
1 1.000 0.036 12 61858476 intron variant A/G snp 0.48 0.700 1 2017 2017
dbSNP: rs117957029
rs117957029
1 1.000 0.036 12 127200688 intergenic variant T/C snp 1.5E-02 0.700 1 2017 2017
dbSNP: rs13125782
rs13125782
1 1.000 0.036 4 7426539 intron variant T/A,C,G snp 0.78 0.700 1 2017 2017
dbSNP: rs145241704
rs145241704
1 1.000 0.036 7 141805287 regulatory region variant T/G snp 8.0E-02 0.700 1 2014 2014
dbSNP: rs200312312
rs200312312
1 1.000 0.036 5 104666645 intron variant T/C snp 0.14; 2.0E-02; 1.7E-02; 4.1E-02; 7.6E-03 0.700 1 2017 2017
dbSNP: rs4622308
rs4622308
1 1.000 0.036 12 56075401 intergenic variant C/T snp 0.700 1 2017 2017
dbSNP: rs62090893
rs62090893
1 1.000 0.036 18 75338379 G/A snp 9.5E-02 0.700 1 2014 2014
dbSNP: rs929626
rs929626
1 1.000 0.036 5 158883623 intron variant A/G snp 0.40 0.700 1 2017 2017
dbSNP: rs9839776
rs9839776
1 1.000 0.036 3 181593779 intron variant C/G,T snp 9.6E-05; 0.30 0.700 1 2015 2015
dbSNP: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.070 1.000 7 2004 2014
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.070 1.000 7 2004 2014
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.050 1.000 5 2001 2018
dbSNP: rs1473473
rs1473473
4 0.923 0.071 12 72010598 intron variant C/T snp 0.80 0.020 1.000 2 2011 2013
dbSNP: rs2295193
rs2295193
2 1.000 0.036 6 152131959 intron variant G/A,C snp 0.61; 3.2E-05 0.020 1.000 2 2010 2014
dbSNP: rs5030980
rs5030980
5 0.923 0.107 16 67483042 missense variant C/T snp 3.2E-02 2.8E-02 0.020 1.000 2 2005 2007
dbSNP: rs726281
rs726281
1 1.000 0.036 6 151981443 intron variant G/A snp 0.57 0.020 1.000 2 2010 2014
dbSNP: rs10070190
rs10070190
2 0.923 0.036 5 26866262 intergenic variant G/A snp 0.59 0.010 1.000 1 2014 2014
dbSNP: rs10096097
rs10096097
1 1.000 0.036 8 30169582 intron variant G/A snp 0.62 0.010 1.000 1 2011 2011
dbSNP: rs1042571
rs1042571
4 0.878 0.107 2 25161018 3 prime UTR variant G/A snp 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1049353
rs1049353
26 0.657 0.464 6 88143916 synonymous variant C/T snp 0.21 0.20 0.010 1.000 1 2010 2010
dbSNP: rs11179027
rs11179027
1 1.000 0.036 12 71983532 intron variant G/C snp 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1176744
rs1176744
16 0.715 0.143 11 113932306 missense variant A/C snp 0.33 0.34 0.010 1.000 1 2009 2009
dbSNP: rs11783752
rs11783752
2 0.923 0.036 8 20192013 intergenic variant G/A,C snp 0.68 0.010 1.000 1 2014 2014
dbSNP: rs13338499
rs13338499
2 0.923 0.036 16 67486220 intron variant A/G,T snp 0.27 0.010 1.000 1 2015 2015
dbSNP: rs200960801
rs200960801
4 0.878 0.107 6 151944488 missense variant A/G snp 4.0E-06 0.010 1.000 1 2002 2002