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: 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 2005 2005
dbSNP: rs146855738
rs146855738
2 1.000 0.080 12 121001145 missense variant G/A;C snv 3.6E-05; 4.0E-06; 8.0E-06 5.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs2806489
rs2806489
2 1.000 0.080 X 78327951 upstream gene variant C/T snv 0.010 < 0.001 1 2009 2009
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2008 2010
dbSNP: rs121912633
rs121912633
10 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2664538
rs2664538
6 0.827 0.200 20 46011586 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs3742030
rs3742030
4 0.925 0.080 12 109814742 missense variant G/A;C snv 3.7E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs8065080
rs8065080
11 0.827 0.200 17 3577153 missense variant T/C snv 0.37 0.32 0.010 1.000 1 2010 2010
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
dbSNP: rs2234922
rs2234922
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs2981573
rs2981573
4 0.882 0.160 1 206867232 intron variant G/A snv 0.77 0.010 1.000 1 2011 2011
dbSNP: rs770460061
rs770460061
14 0.742 0.240 11 67585239 missense variant T/C;G snv 4.0E-06; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 < 0.001 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs324011
rs324011
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2012 2012
dbSNP: rs8113232
rs8113232
3 0.925 0.160 19 3586545 synonymous variant G/A snv 4.0E-06; 0.14 0.24 0.010 1.000 1 2012 2012
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.020 1.000 2 2009 2013
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3024492
rs3024492
1 1 206770767 5 prime UTR variant T/A snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs848
rs848
8 0.807 0.240 5 132660808 3 prime UTR variant A/C snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs10513854
rs10513854
1 3 190588085 intron variant C/T snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1138272
rs1138272
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1342326
rs1342326
9 0.790 0.360 9 6190076 intergenic variant A/C snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs17639215
rs17639215
1 2 102336984 intron variant G/A snv 9.7E-02 0.010 1.000 1 2014 2014