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: rs1042838
rs1042838
PGR
12 0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06 0.020 0.500 2 2010 2015
dbSNP: rs142077957
rs142077957
1 11 101127985 synonymous variant C/G;T snv 4.1E-06; 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs1388271217
rs1388271217
1 11 101128477 synonymous variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs10895275
rs10895275
1 11 102212877 intron variant T/A snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2014 2014
dbSNP: rs1890185
rs1890185
1 10 102988961 intron variant A/G snv 0.41 0.800 1.000 1 2013 2013
dbSNP: rs4909945
rs4909945
2 11 10652192 missense variant T/A;C snv 0.76 0.800 1.000 1 2013 2013
dbSNP: rs4910165
rs4910165
2 11 10652497 intron variant C/G snv 0.78 0.700 1.000 2 2016 2016
dbSNP: rs111404218
rs111404218
1 20 10703511 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs747587627
rs747587627
1 12 109996209 missense variant G/A snv 1.0E-04 1.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs10155855
rs10155855
1 7 111688341 intergenic variant A/T snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs712507
rs712507
1 3 111936542 intron variant T/C snv 0.69 0.010 < 0.001 1 2015 2015
dbSNP: rs2230774
rs2230774
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 < 0.001 1 2014 2014
dbSNP: rs2256368
rs2256368
1 10 112426866 splice region variant G/A snv 0.93 0.93 0.010 1.000 1 2016 2016
dbSNP: rs12355831
rs12355831
1 10 112442768 intron variant A/G snv 7.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2010 2010
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2010 2010
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.020 1.000 2 2013 2018
dbSNP: rs6275
rs6275
7 0.851 0.160 11 113412755 synonymous variant A/G snv 0.64 0.58 0.040 0.750 4 2012 2015
dbSNP: rs1799732
rs1799732
11 0.790 0.160 11 113475529 intron variant -/G delins 0.020 0.500 2 2013 2015
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 1.000 2 2010 2014
dbSNP: rs694539
rs694539
10 0.776 0.200 11 114262697 intron variant C/T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.020 0.500 2 2004 2007
dbSNP: rs2078371
rs2078371
2 1.000 0.040 1 115134562 regulatory region variant T/C snv 0.14 0.720 1.000 3 2013 2018