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: rs2651899
rs2651899
5 0.882 0.040 1 3167148 intron variant T/A;C snv 0.880 1.000 9 2011 2020
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2003 2018
dbSNP: rs6478241
rs6478241
3 0.925 0.040 9 116490350 intron variant A/G;T snv 0.800 1.000 3 2012 2016
dbSNP: rs867770797
rs867770797
8 0.851 0.200 4 147519875 missense variant G/A snv 0.030 1.000 3 2001 2011
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: rs1043994
rs1043994
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.020 1.000 2 2006 2015
dbSNP: rs11624776
rs11624776
3 14 93129246 regulatory region variant A/C;T snv 0.700 1.000 2 2016 2016
dbSNP: rs13208321
rs13208321
1 6 96412478 intron variant A/G;T snv 0.020 1.000 2 2015 2017
dbSNP: rs1799732
rs1799732
11 0.790 0.160 11 113475529 intron variant -/G delins 0.020 0.500 2 2013 2015
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 0.500 2 2007 2011
dbSNP: rs1925950
rs1925950
1 1 156480948 missense variant G/A;C snv 0.62 0.800 1.000 2 2012 2016
dbSNP: rs202206511
rs202206511
1 1 156486509 intron variant -/T delins 0.700 1.000 2 2012 2013
dbSNP: rs3810651
rs3810651
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.020 1.000 2 2013 2018
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.020 0.500 2 2004 2007
dbSNP: rs6790925
rs6790925
3 0.925 0.040 3 30438593 intergenic variant C/G;T snv 0.810 0.500 2 2013 2014
dbSNP: rs743506
rs743506
4 0.925 0.120 7 151009827 intron variant G/A;C snv 0.020 1.000 2 2011 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 0.500 2 2008 2015
dbSNP: rs7640543
rs7640543
1 3 30420911 regulatory region variant G/A;T snv 0.810 1.000 2 2012 2014
dbSNP: rs10156578
rs10156578
1 9 29372503 intergenic variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1024905
rs1024905
2 1.000 0.040 12 4408974 downstream gene variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs1047964
rs1047964
3 11 117286177 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs10803531
rs10803531
1 2 132469969 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs111404218
rs111404218
1 20 10703511 intron variant C/G;T snv 0.700 1.000 1 2016 2016