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: rs179363901
rs179363901
3 0.882 0.120 X 154097661 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs4646
rs4646
16 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 0.010 1.000 1 2009 2009
dbSNP: rs728524
rs728524
1 1.000 0.040 6 151982302 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs8179176
rs8179176
1 1.000 0.040 6 151842199 intron variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs1143684
rs1143684
4 0.882 0.160 6 3010156 missense variant C/T snv 0.79 0.84 0.010 1.000 1 2010 2010
dbSNP: rs140701
rs140701
7 0.790 0.200 17 30211514 intron variant C/T snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs3813034
rs3813034
8 0.827 0.160 17 30197786 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs4795541
rs4795541
7 0.807 0.200 17 30237299 upstream gene variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs863225300
rs863225300
1 0.925 0.280 14 36517960 stop gained G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1061170
rs1061170
CFH
69 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2011 2011
dbSNP: rs112422930
rs112422930
4 0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2011 2011
dbSNP: rs2189814
rs2189814
3 0.925 0.040 7 86702440 intron variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs267606663
rs267606663
3 0.925 0.080 19 44909021 missense variant G/A;C snv 7.3E-06 0.010 1.000 1 2011 2011
dbSNP: rs3219484
rs3219484
7 0.807 0.160 1 45334484 missense variant C/A;T snv 4.8E-02 4.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs3219489
rs3219489
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2011 2011
dbSNP: rs375752214
rs375752214
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs564919438
rs564919438
2 1.000 0.040 1 45332421 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs772720363
rs772720363
2 1.000 0.040 20 63350819 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs8074995
rs8074995
5 0.925 0.040 17 66796013 intron variant G/A snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs8191664
rs8191664
7 0.807 0.200 8 11786044 missense variant G/A;C;T snv 4.0E-05; 3.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs9939609
rs9939609
FTO
80 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs371425292
rs371425292
APP
10 0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2004 2012