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: rs17880135
rs17880135
1 21 31669690 upstream gene variant T/G snv 3.9E-02 0.020 1.000 2 2008 2011
dbSNP: rs1025423410
rs1025423410
1 4 38798831 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs10521145
rs10521145
1 16 28585563 intron variant G/A snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs11568054
rs11568054
AGT
1 1 230709809 intron variant G/A snv 3.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs121912863
rs121912863
2 1.000 2 227008112 missense variant G/A snv 1.6E-04 1.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs1317776692
rs1317776692
1 14 104701619 missense variant C/G;T snv 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs13293564
rs13293564
1 9 35166766 intron variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1427118369
rs1427118369
1 2 227283830 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs17881180
rs17881180
1 21 31659974 non coding transcript exon variant C/T snv 3.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs204732
rs204732
1 21 31720530 intron variant G/A snv 0.11 0.010 1.000 1 2008 2008
dbSNP: rs4293
rs4293
ACE
1 17 63478305 non coding transcript exon variant G/A snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs55807605
rs55807605
CFH
1 1 196736919 missense variant G/A snv 1.4E-03 5.5E-04 0.010 1.000 1 2017 2017
dbSNP: rs57960694
rs57960694
1 1 196994083 missense variant G/A snv 1.1E-02 3.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs653747
rs653747
2 15 97659878 intron variant C/T snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs739401
rs739401
2 11 3015094 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs776400293
rs776400293
1 4 186076620 start lost A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7947841
rs7947841
CAT
1 11 34470133 intron variant G/A snv 1.0E-01 0.010 1.000 1 2013 2013
dbSNP: rs868580411
rs868580411
2 1.000 X 108602973 missense variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs8731
rs8731
1 2 27650459 3 prime UTR variant C/G snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs9275424
rs9275424
1 6 32702799 downstream gene variant A/G snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs9896208
rs9896208
ACE
1 17 63498748 intron variant T/C snv 0.57 0.010 1.000 1 2005 2005
dbSNP: rs9932581
rs9932581
CYBA ; MVD
1 16 88651945 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2015 2015
dbSNP: rs2053044
rs2053044
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs216311
rs216311
VWF
7 0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69 0.010 1.000 1 2000 2000
dbSNP: rs426496
rs426496
3 1.000 0.040 12 49954295 synonymous variant T/C snv 0.77 0.71 0.010 1.000 1 2016 2016