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: rs1042580
rs1042580
2 20 23046984 3 prime UTR variant T/C snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 < 0.001 1 2006 2006
dbSNP: rs11077
rs11077
14 0.732 0.320 6 43523209 3 prime UTR variant T/G snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2009 2009
dbSNP: rs1181835738
rs1181835738
ACE
1 17 63490971 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1183827513
rs1183827513
F2
1 11 46739325 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121918027
rs121918027
PLG
7 0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04 0.010 1.000 1 2017 2017
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1312546120
rs1312546120
F5
7 0.807 0.160 1 169541191 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1331120970
rs1331120970
1 2 127428921 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1338029670
rs1338029670
1 2 8800409 missense variant A/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs142846443
rs142846443
2 1.000 0.120 3 93877074 missense variant T/C snv 8.0E-04 4.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs1432422306
rs1432422306
FGA
3 0.925 0.120 4 154586432 frameshift variant TTCCAGT/- del 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1458766475
rs1458766475
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs146922325
rs146922325
5 0.851 0.160 2 127426114 missense variant C/T snv 7.5E-04 3.2E-04 0.010 1.000 1 2014 2014
dbSNP: rs1558902
rs1558902
FTO
21 0.827 0.120 16 53769662 intron variant T/A snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs174547
rs174547
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1799810
rs1799810
5 1.000 0.040 2 127418464 5 prime UTR variant A/T snv 0.38 0.44 0.010 1.000 1 2015 2015
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2009 2009
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
dbSNP: rs1800576
rs1800576
4 0.925 0.080 20 23049378 missense variant C/T snv 2.0E-03 2.5E-03 0.010 < 0.001 1 2005 2005