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: rs6897932
rs6897932
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.010 1.000 1 2009 2009
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs2187668
rs2187668
20 0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs3117582
rs3117582
14 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.900 0.933 15 2005 2019
dbSNP: rs2516049
rs2516049
12 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs11465804
rs11465804
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs10877012
rs10877012
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1480380
rs1480380
10 0.763 0.360 6 32945469 intron variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs179008
rs179008
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2013 2013
dbSNP: rs1800076
rs1800076
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs3811381
rs3811381
CR1
11 0.763 0.240 1 207616743 missense variant C/A;G snv 8.0E-06; 0.24 0.010 1.000 1 2002 2002
dbSNP: rs694739
rs694739
9 0.763 0.320 11 64329761 upstream gene variant A/G snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs9461776
rs9461776
11 0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs3817963
rs3817963
8 0.776 0.360 6 32400310 intron variant T/C snv 0.25 0.710 1.000 2 2012 2013
dbSNP: rs2075800
rs2075800
8 0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25 0.010 1.000 1 2007 2007
dbSNP: rs389884
rs389884
10 0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs9271770
rs9271770
10 0.776 0.120 6 32626471 upstream gene variant G/A snv 0.76 0.700 1.000 1 2012 2012
dbSNP: rs477515
rs477515
10 0.790 0.400 6 32601914 intergenic variant G/A snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs6910071
rs6910071
7 0.790 0.320 6 32315077 intron variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs9257809
rs9257809
10 0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs9298814
rs9298814
7 0.790 0.160 9 21227623 missense variant A/C;G snv 0.12; 8.8E-06 0.010 1.000 1 2004 2004
dbSNP: rs10399931
rs10399931
6 0.807 0.320 1 203186952 upstream gene variant T/A;C snv 0.020 1.000 2 2009 2011
dbSNP: rs9268403
rs9268403
6 0.807 0.240 6 32373696 intron variant T/C snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs7194
rs7194
7 0.827 0.280 6 32444703 3 prime UTR variant G/A snv 0.61 0.700 1.000 2 2008 2012