Source: ALL
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.833 12 1999 2014
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.090 0.778 9 1997 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2005 2010
dbSNP: rs5355
rs5355
SELE ; C1orf112
14 0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02 0.020 0.500 2 2006 2014
dbSNP: rs61747728
rs61747728
NPHS2
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.020 1.000 2 2012 2013
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2009 2009
dbSNP: rs10783124
rs10783124 		1 1.000 0.080 1 99937719 intergenic variant A/G snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs12032578
rs12032578
LINC00624
1 1.000 0.080 1 147339048 intron variant T/C snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs12134854
rs12134854
SLC44A5
2 1.000 0.080 1 75671921 intron variant T/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs12137135
rs12137135 		2 0.925 0.080 1 22348728 intergenic variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2009 2009
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 2001 2001
dbSNP: rs1933182
rs1933182 		3 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 0.700 1.000 1 2010 2010
dbSNP: rs2229569
rs2229569
SELL ; C1orf112
8 0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs2490391
rs2490391
SDCCAG8
2 1.000 0.080 1 243306367 3 prime UTR variant A/C snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs267734
rs267734 		7 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs2802723
rs2802723
SDCCAG8
2 0.925 0.080 1 243335010 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs28415528
rs28415528
THEM4
2 1.000 0.080 1 151907285 intron variant G/A snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs379489
rs379489
CFH
4 0.851 0.200 1 196724321 intron variant A/G snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs515299
rs515299
CFH
4 0.925 0.080 1 196737547 missense variant G/A;C;T snv 4.8E-05; 1.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs6587640
rs6587640
S100A10
2 1.000 0.080 1 151982754 downstream gene variant C/T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs6657658
rs6657658 		2 1.000 0.080 1 151967388 regulatory region variant T/C snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs6672843
rs6672843
SDCCAG8
1 1.000 0.080 1 243316789 missense variant G/A snv 8.8E-05 2.8E-04 0.700 1.000 1 2018 2018
dbSNP: rs74315342
rs74315342
NPHS2
10 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs76064236
rs76064236 		1 1.000 0.080 1 226335330 upstream gene variant T/G snv 2.1E-03 0.700 1.000 1 2019 2019