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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 0.750 8 2005 2014
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.050 1.000 5 2004 2015
dbSNP: rs1800440
rs1800440
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.050 1.000 5 2004 2015
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.050 0.800 5 2004 2015
dbSNP: rs2279744
rs2279744
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.040 1.000 4 2014 2018
dbSNP: rs10012
rs10012
16 0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36 0.030 1.000 3 2010 2015
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.030 < 0.001 3 2007 2012
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 1.000 3 2012 2014
dbSNP: rs4430796
rs4430796
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.730 1.000 3 2011 2018
dbSNP: rs605059
rs605059
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.030 1.000 3 2004 2015
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 0.500 2 2011 2012
dbSNP: rs1056827
rs1056827
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 0.500 2 2011 2015
dbSNP: rs1057519854
rs1057519854
7 0.882 0.080 10 121488063 missense variant A/T snv 0.020 1.000 2 2011 2013
dbSNP: rs11224561
rs11224561
PGR
2 0.925 0.080 11 101034325 3 prime UTR variant C/A;T snv 0.020 1.000 2 2009 2011
dbSNP: rs11263763
rs11263763
6 0.882 0.200 17 37743574 intron variant A/G snv 0.43 0.800 1.000 2 2011 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs11651052
rs11651052
7 0.851 0.200 17 37742390 intron variant G/A snv 0.50 0.800 1.000 2 2011 2016
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.020 1.000 2 2009 2010
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2007 2015
dbSNP: rs121913476
rs121913476
7 0.851 0.080 10 121498520 missense variant A/C;T snv 0.020 1.000 2 2011 2013
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 1.000 2 2013 2014
dbSNP: rs1740828
rs1740828
2 0.925 0.080 6 21648854 regulatory region variant G/A snv 0.55 0.710 1.000 2 2016 2018
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.020 1.000 2 2013 2018
dbSNP: rs1799814
rs1799814
8 0.807 0.160 15 74720646 missense variant G/A;T snv 1.6E-05; 3.1E-02 0.020 < 0.001 2 2007 2011
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 2006 2015