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: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2004 2004
dbSNP: rs500760
rs500760
PGR
3 0.882 0.120 11 101039260 synonymous variant T/C snv 0.24 0.29 0.010 1.000 1 2005 2005
dbSNP: rs2070074
rs2070074
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1996 2006
dbSNP: rs75391579
rs75391579
5 0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs9340773
rs9340773
1 1.000 0.040 6 151808141 missense variant G/A;C snv 4.6E-03; 4.5E-06 0.010 1.000 1 2006 2006
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 < 0.001 1 2007 2007
dbSNP: rs700518
rs700518
13 0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 0.010 < 0.001 1 2007 2007
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2008 2009
dbSNP: rs17577
rs17577
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs2250889
rs2250889
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs2292596
rs2292596
7 0.827 0.240 5 422840 missense variant C/G;T snv 0.38; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs811
rs811
1 1.000 0.040 12 90382160 intergenic variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2004 2010
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2004 2010
dbSNP: rs1037189404
rs1037189404
8 0.776 0.280 1 155187519 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2010 2010
dbSNP: rs1181860747
rs1181860747
10 0.776 0.240 19 7122961 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2010 2010
dbSNP: rs1805097
rs1805097
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs4778889
rs4778889
24 0.683 0.480 15 81296654 intron variant T/C snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs766333007
rs766333007
8 0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2010 2010
dbSNP: rs10895068
rs10895068
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.010 1.000 1 2011 2011