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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 1.000 15 1996 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 0.667 6 1999 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2009 2012
dbSNP: rs11122576
rs11122576
AGT
2 1.000 0.080 1 230710933 intron variant T/C snv 8.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs11568054
rs11568054
AGT
1 1 230709809 intron variant G/A snv 3.6E-02 0.010 1.000 1 2013 2013
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 2016 2016
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012
dbSNP: rs1926723
rs1926723
AGT
2 1.000 0.080 1 230704350 intron variant T/A;C;G snv 1.2E-05; 0.11; 2.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs2808630
rs2808630 		13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 < 0.001 1 2011 2011
dbSNP: rs3729548
rs3729548
SLC2A1
2 1.000 0.080 1 42934681 intron variant C/T snv 0.32 0.010 1.000 1 2018 2018
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
CFHR5
1 1 196994083 missense variant G/A snv 1.1E-02 3.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs61747728
rs61747728
NPHS2
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.800 1.000 1 2011 2011
dbSNP: rs758564400
rs758564400
REN
5 0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs841853
rs841853
SLC2A1
4 0.882 0.200 1 42935767 intron variant A/C snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs869025495
rs869025495
NPHS2
6 0.851 0.080 1 179564715 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.020 1.000 2 2014 2017
dbSNP: rs121912863
rs121912863
COL4A4
2 1.000 2 227008112 missense variant G/A snv 1.6E-04 1.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs1427118369
rs1427118369
COL4A3 ; MFF-DT
1 2 227283830 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs315952
rs315952
IL1RN
10 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 0.010 < 0.001 1 2006 2006
dbSNP: rs4972593
rs4972593
LOC107985961
3 0.925 0.200 2 173598126 intergenic variant T/A snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs55703767
rs55703767
COL4A3 ; MFF-DT
3 0.925 0.160 2 227256385 missense variant G/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2019 2019
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2002 2002