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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.857 14 2010 2019
dbSNP: rs17217772
rs17217772
10 0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 0.010 1.000 1 2005 2005
dbSNP: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.020 1.000 2 2018 2018
dbSNP: rs1284806277
rs1284806277
MOK
13 0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 0.020 1.000 2 2011 2016
dbSNP: rs10009228
rs10009228
1 4 40354405 missense variant A/G snv 0.78 0.76 0.010 1.000 1 2012 2012
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: rs137852578
rs137852578
AR
10 0.827 0.080 X 67723710 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2012 2012
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: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2012 2012
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs562015640
rs562015640
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 < 0.001 1 2018 2018
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: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.050 0.800 5 2011 2017
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2012 2013
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: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1800206
rs1800206
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2008 2008
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: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2013 2013
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