Source: ALL
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: rs137852578
rs137852578
AR
10 0.827 0.080 X 67723710 missense variant A/G snv 0.800 1.000 14 2002 2015
dbSNP: rs1034866440
rs1034866440
AR
4 0.851 0.160 X 67643401 missense variant G/A snv 5.7E-06 0.040 0.750 4 2002 2011
dbSNP: rs137852569
rs137852569
AR
10 0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06 0.040 0.750 4 2002 2011
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 0.740 1.000 4 2000 2004
dbSNP: rs5945572
rs5945572 		3 0.882 0.160 X 51486831 downstream gene variant A/G snv 0.730 1.000 4 2008 2010
dbSNP: rs5945619
rs5945619
LINC01496
3 0.882 0.160 X 51498820 non coding transcript exon variant C/T snv 0.720 1.000 3 2008 2009
dbSNP: rs864622007
rs864622007
AR
5 0.882 0.200 X 67711621 missense variant T/A snv 0.830 1.000 3 2002 2010
dbSNP: rs1057519864
rs1057519864
AR
8 0.851 0.080 X 67723707 missense variant T/C snv 0.020 1.000 2 2013 2015
dbSNP: rs1327301
rs1327301 		3 0.882 0.160 X 51467205 downstream gene variant C/T snv 0.29 0.700 1.000 2 2008 2009
dbSNP: rs137852581
rs137852581
AR
5 0.882 0.080 X 67723701 missense variant C/T snv 0.720 1.000 2 1997 2007
dbSNP: rs976306779
rs976306779
AR
8 0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06 0.020 1.000 2 2005 2008
dbSNP: rs1057519912
rs1057519912
MED12
11 0.776 0.200 X 71129408 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs137852571
rs137852571
AR
3 0.882 0.080 X 67717495 missense variant G/A snv 7.7E-05 1.9E-05 0.710 1.000 1 2003 2003
dbSNP: rs139756052
rs139756052
AR
2 0.925 0.080 X 67643314 missense variant A/T snv 1.3E-04 5.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs1419040
rs1419040 		1 1.000 0.080 X 51609183 intergenic variant G/A snv 0.700 1.000 1 2008 2008
dbSNP: rs17302090
rs17302090 		2 0.925 0.080 X 67535561 downstream gene variant G/A snv 8.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs2315123
rs2315123
OPN1LW
2 0.925 0.080 X 154156372 missense variant T/C;G snv 5.5E-06 0.010 1.000 1 2013 2013
dbSNP: rs2405942
rs2405942
SHROOM2
2 0.925 0.080 X 9846095 intron variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4604628
rs4604628 		1 1.000 0.080 X 51644318 intergenic variant C/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs5919432
rs5919432 		3 0.882 0.160 X 67801708 intergenic variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs5945372
rs5945372
PNMA6E ; LOC105373379
2 0.925 0.080 X 153400456 intron variant A/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs5991735
rs5991735
MAGED1
1 1.000 0.080 X 51809788 intron variant G/A;C snv 0.700 1.000 1 2008 2008
dbSNP: rs6152
rs6152
AR
9 0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28 0.010 1.000 1 2015 2015
dbSNP: rs6624304
rs6624304
AR
3 0.882 0.160 X 67655914 intron variant T/A;C snv 0.010 1.000 1 2017 2017