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: rs6696217
rs6696217
2 1 169491488 non coding transcript exon variant A/G snv 0.92 0.700 1.000 2 2011 2012
dbSNP: rs7538157
rs7538157
1 1 169382306 intron variant A/C;G snv 5.9E-03; 6.2E-05 0.700 1.000 2 2011 2012
dbSNP: rs970740
rs970740
2 1 169510736 downstream gene variant C/T snv 0.95 0.700 1.000 2 2011 2012
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: rs10746487
rs10746487
1 1 9278630 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10919507
rs10919507
1 1 170885468 intron variant C/T snv 3.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs113976843
rs113976843
1 1 170254627 intron variant T/C snv 8.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs115063924
rs115063924
1 1 168741790 intron variant C/A;T snv 6.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs12061601
rs12061601
3 1.000 0.040 1 169101212 intron variant T/C snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs1209731
rs1209731
2 1 169355555 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12120558
rs12120558
1 1 170366687 downstream gene variant G/A snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs12122803
rs12122803
1 1 169825364 intron variant A/G snv 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs12136148
rs12136148
1 1 170123530 intergenic variant T/G snv 6.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs12732487
rs12732487
1 1 114120337 intron variant G/A snv 0.11 0.700 1.000 1 2019 2019
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: rs1336472
rs1336472
AK4
1 1 65230247 3 prime UTR variant G/A snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs144405847
rs144405847
1 1 82342193 intron variant C/T snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs145163454
rs145163454
1 1 169121510 intron variant T/C snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs145470028
rs145470028
1 1 230850661 intron variant G/T snv 1.4E-02 0.700 1.000 1 2019 2019
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: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2009 2009
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2000 2000
dbSNP: rs185120584
rs185120584
1 1 169689987 intron variant C/T snv 7.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs191436110
rs191436110
1 1 170621629 intron variant A/G snv 3.0E-03 0.700 1.000 1 2019 2019