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: rs313158
rs313158
1 6 85334045 intergenic variant A/T snv 1.8E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs579459
rs579459
28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.010 1.000 1 2014 2014
dbSNP: rs72653706
rs72653706
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.010 1.000 1 2011 2011
dbSNP: rs1967309
rs1967309
3 0.925 0.080 16 4015582 non coding transcript exon variant A/G snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs34203073
rs34203073
2 1.000 0.040 5 77035624 missense variant G/A snv 1.0E-02 9.9E-03 0.010 1.000 1 2006 2006
dbSNP: rs2144151
rs2144151
1 20 903001 intron variant T/G snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs749437638
rs749437638
14 0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs759985000
rs759985000
2 11 27700987 5 prime UTR variant G/A;C snv 4.2E-06; 8.4E-06 0.010 1.000 1 2018 2018
dbSNP: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs4977574
rs4977574
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2303790
rs2303790
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.030 0.667 3 1999 2018
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: rs267606743
rs267606743
5 1.000 0.160 13 110192222 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs755460305
rs755460305
4 0.882 0.080 3 186732650 missense variant C/A snv 0.010 1.000 1 2001 2001
dbSNP: rs80356814
rs80356814
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 24 1999 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 1999 2007
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 0.500 2 1997 1999
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2009 2009
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.050 0.800 5 2001 2015
dbSNP: rs6809699
rs6809699
2 1.000 0.080 3 151338810 synonymous variant A/C snv 0.87 0.88 0.010 < 0.001 1 2008 2008
dbSNP: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 0.500 2 2008 2019
dbSNP: rs505151
rs505151
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.010 1.000 1 2008 2008
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 1997 1997