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: 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: rs1004446
rs1004446
7 0.827 0.240 11 2148913 intron variant G/A snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs10046
rs10046
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.010 1.000 1 2012 2012
dbSNP: rs1042028
rs1042028
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2008 2008
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: rs1042838
rs1042838
PGR
12 0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs10431923
rs10431923
2 0.925 0.120 16 68805360 intron variant G/T snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs10431924
rs10431924
3 0.882 0.120 16 68805399 intron variant T/C snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs1045242
rs1045242
3 0.925 0.080 5 119393632 3 prime UTR variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs1048290
rs1048290
4 0.851 0.160 19 10489766 synonymous variant G/C snv 0.41 0.48 0.010 1.000 1 2011 2011
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: rs10502289
rs10502289
2 0.925 0.080 18 676789 intron variant A/T snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs10512263
rs10512263
4 0.851 0.120 9 99123789 intron variant T/C snv 6.5E-02 0.010 1.000 1 2016 2016
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: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.050 1.000 5 2004 2015
dbSNP: rs1057519854
rs1057519854
7 0.882 0.080 10 121488063 missense variant A/T snv 0.020 1.000 2 2011 2013
dbSNP: rs1057519945
rs1057519945
12 0.776 0.200 12 132673703 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs1058808
rs1058808
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2009 2009
dbSNP: rs1059234
rs1059234
10 0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13 0.010 < 0.001 1 2015 2015
dbSNP: rs1063539
rs1063539
5 0.827 0.360 3 186857603 3 prime UTR variant G/A;C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1065779
rs1065779
3 0.882 0.120 15 51212614 intron variant A/C;T snv 0.43 0.010 1.000 1 2007 2007
dbSNP: rs10733710
rs10733710
2 0.925 0.080 9 99145142 intron variant G/A snv 0.21 0.010 1.000 1 2016 2016