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: rs73568641
rs73568641
2 1.000 0.080 6 153704004 intergenic variant T/C snv 0.14 0.710 1.000 1 2017 2017
dbSNP: rs12104412
rs12104412
2 1.000 0.080 19 36240156 intron variant A/G;T snv 4.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs1772578
rs1772578
2 1.000 0.080 13 80614113 downstream gene variant A/G snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs7578347
rs7578347
2 1.000 0.080 2 12981042 non coding transcript exon variant C/T snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs9360217
rs9360217
2 1.000 0.080 6 66628700 intergenic variant T/G snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.100 0.900 10 2001 2020
dbSNP: rs1022563
rs1022563
2 0.925 0.080 20 1973693 intron variant C/G;T snv 0.040 0.750 4 2009 2019
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.030 1.000 3 2009 2015
dbSNP: rs1997794
rs1997794
4 0.851 0.120 20 1994212 5 prime UTR variant T/C snv 0.50 0.030 0.667 3 2009 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 0.667 3 2008 2016
dbSNP: rs1042114
rs1042114
6 0.807 0.120 1 28812463 missense variant G/C;T snv 0.91 0.020 1.000 2 2008 2018
dbSNP: rs2234918
rs2234918
5 0.827 0.200 1 28863085 synonymous variant C/T snv 0.59 0.50 0.020 1.000 2 2000 2008
dbSNP: rs910080
rs910080
4 0.851 0.120 20 1979580 3 prime UTR variant A/G snv 0.35 0.020 1.000 2 2018 2019
dbSNP: rs1042363
rs1042363
4 0.882 0.080 6 151356693 3 prime UTR variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs10854142
rs10854142
1 1.000 0.080 19 9302780 intron variant A/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs1126671
rs1126671
5 0.851 0.120 4 99127263 missense variant T/C snv 0.76 0.75 0.010 1.000 1 2005 2005
dbSNP: rs12442183
rs12442183
2 1.000 0.080 15 93204756 intergenic variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs12460279
rs12460279
1 1.000 0.080 19 9300678 intron variant A/G snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs165774
rs165774
11 0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1799732
rs1799732
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2011 2011
dbSNP: rs1799972
rs1799972
6 0.827 0.080 6 154039561 missense variant C/A;G;T snv 4.1E-06; 1.7E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs1866146
rs1866146
2 1.000 0.080 2 25157704 3 prime UTR variant G/A;C snv 0.010 1.000 1 2009 2009