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: rs2645429
rs2645429
7 0.790 0.120 8 11802542 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1447295
rs1447295
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs4242382
rs4242382
9 0.763 0.240 8 127505328 intergenic variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs78105154
rs78105154
2 0.925 0.080 17 12994991 missense variant G/A snv 3.2E-04 7.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs1374051619
rs1374051619
5 0.827 0.080 17 12995026 missense variant C/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs5030739
rs5030739
8 0.776 0.160 17 12996585 missense variant C/T snv 3.5E-02 2.9E-02 0.010 1.000 1 2001 2001
dbSNP: rs4792311
rs4792311
9 0.776 0.160 17 13011692 missense variant G/A;C snv 0.27 0.030 0.667 3 2001 2010
dbSNP: rs627928
rs627928
10 0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 0.020 1.000 2 2002 2008
dbSNP: rs486907
rs486907
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.030 1.000 3 2004 2008
dbSNP: rs74315364
rs74315364
13 0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 0.020 1.000 2 2004 2005
dbSNP: rs10486567
rs10486567
9 0.851 0.120 7 27936944 intron variant G/A snv 0.28 0.010 1.000 1 2014 2014
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: rs9282861
rs9282861
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2004 2004
dbSNP: rs1799977
rs1799977
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2006 2006
dbSNP: rs63750109
rs63750109
3 0.882 0.120 3 37048559 missense variant G/A;T snv 1.1E-04; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs35831931
rs35831931
4 0.882 0.120 3 37050528 missense variant G/A;T snv 1.2E-03; 2.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs1114167843
rs1114167843
3 0.882 0.120 2 47478396 missense variant A/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs536562413
rs536562413
15 0.732 0.240 2 47799934 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs138213197
rs138213197
24 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.060 1.000 6 2012 2015
dbSNP: rs117251022
rs117251022
5 0.827 0.120 13 49630641 missense variant G/A;C;T snv 8.8E-05; 1.9E-03 0.010 1.000 1 2008 2008
dbSNP: rs3803185
rs3803185
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.020 1.000 2 2008 2011
dbSNP: rs34301344
rs34301344
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.010 1.000 1 2008 2008
dbSNP: rs755100942
rs755100942
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.010 1.000 1 2008 2008
dbSNP: rs137852593
rs137852593
AR
8 0.827 0.160 X 67717484 missense variant G/A;C;T snv 2.2E-05; 1.1E-05; 9.1E-04 0.010 1.000 1 2003 2003