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: rs10009228
rs10009228
1 4 40354405 missense variant A/G snv 0.78 0.76 0.010 1.000 1 2012 2012
dbSNP: rs2073778
rs2073778
1 22 20087052 non coding transcript exon variant C/T snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs557263543
rs557263543
3 8 38412508 3 prime UTR variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs587782148
rs587782148
2 17 7676113 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs720012
rs720012
1 22 20111059 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs961150162
rs961150162
3 7 55198779 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs969139366
rs969139366
3 4 54277974 missense variant T/C snv 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs762807774
rs762807774
2 1.000 0.040 1 1228495 frameshift variant CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC delins 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1057519771
rs1057519771
2 1.000 0.080 9 130872201 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs11672691
rs11672691
3 0.925 0.080 19 41479679 non coding transcript exon variant G/A snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs1285136498
rs1285136498
13 0.807 0.080 5 143400101 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs137852578
rs137852578
AR
10 0.827 0.080 X 67723710 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1443465532
rs1443465532
6 0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs200863613
rs200863613
6 0.925 0.080 9 21971061 missense variant C/A;T snv 8.5E-05 3.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs201216664
rs201216664
5 0.851 0.080 17 51171503 missense variant A/G snv 0.010 1.000 1 1995 1995
dbSNP: rs367597251
rs367597251
10 0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04 0.010 1.000 1 2000 2000
dbSNP: rs55958994
rs55958994
3 0.925 0.080 12 52907235 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs121917887
rs121917887
10 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 0.010 1.000 1 1995 1995
dbSNP: rs1288373809
rs1288373809
5 0.882 0.120 17 7673255 synonymous variant G/A snv 5.3E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs3136797
rs3136797
10 0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02 0.010 1.000 1 2007 2007
dbSNP: rs438034
rs438034
4 0.882 0.120 1 214657274 stop gained A/G;T snv 0.61 0.010 1.000 1 2011 2011
dbSNP: rs1273593548
rs1273593548
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs2016347
rs2016347
9 0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs7121
rs7121
6 0.882 0.160 20 58903752 missense variant C/G;T snv 0.54 0.010 1.000 1 2019 2019