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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2016 2016
dbSNP: rs4244285
rs4244285
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1801252
rs1801252
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.010 1.000 1 2005 2005
dbSNP: rs822442
rs822442
4 0.851 0.160 1 156913423 missense variant C/A;T snv 0.14; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3732378
rs3732378
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.020 1.000 2 2005 2018
dbSNP: rs5065
rs5065
12 0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21 0.010 1.000 1 2012 2012
dbSNP: rs3737224
rs3737224
3 0.882 0.160 1 156909788 synonymous variant C/T snv 0.14 0.13 0.010 1.000 1 2018 2018
dbSNP: rs751141
rs751141
16 0.732 0.400 8 27516348 missense variant G/A snv 0.12 0.10 0.010 1.000 1 2018 2018
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs11053646
rs11053646
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2010 2010
dbSNP: rs41507953
rs41507953
10 0.790 0.280 8 27500988 missense variant A/G snv 8.7E-02 0.13 0.010 1.000 1 2018 2018
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2011 2018
dbSNP: rs5940
rs5940
3 0.882 0.080 2 187466977 missense variant C/T snv 1.3E-02 1.4E-02 0.010 1.000 1 1999 1999
dbSNP: rs76863441
rs76863441
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs61361928
rs61361928
1 1.000 0.040 4 69096657 missense variant T/C snv 2.6E-03 2.8E-03 0.700 1.000 1 2015 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1202989817
rs1202989817
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1265538677
rs1265538677
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs559110055
rs559110055
2 0.925 0.160 9 104840491 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1187513719
rs1187513719
4 0.851 0.200 10 94780595 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs747112750
rs747112750
1 1.000 0.040 1 202307363 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005