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
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 0.833 6 2006 2019
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2013 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2006 2013
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.020 0.500 2 2006 2011
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 0.500 2 2006 2011
dbSNP: rs10489678
rs10489678
1 1.000 0.120 1 157699878 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1050450
rs1050450
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2012 2012
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 2012 2012
dbSNP: rs10955255
rs10955255
1 1.000 0.120 8 101524177 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1264525329
rs1264525329
1 1.000 0.120 6 159682587 missense variant T/C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1387153
rs1387153
10 0.807 0.200 11 92940662 downstream gene variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2013 2013
dbSNP: rs2075575
rs2075575
5 0.851 0.200 18 26866562 intron variant G/A snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs2075800
rs2075800
8 0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25 0.010 1.000 1 2012 2012
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs28357984
rs28357984
COX1 ; ND2
6 0.851 0.160 MT 5178 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs3736309
rs3736309
2 0.925 0.120 12 49964271 intron variant A/G snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs3761959
rs3761959
7 0.827 0.320 1 157699488 intron variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3805435
rs3805435
3 0.882 0.120 5 151021735 non coding transcript exon variant T/C snv 8.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs3840634
rs3840634
2 0.925 0.120 7 116556798 intron variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs4673
rs4673
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2012 2012