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 0.917 12 2005 2017
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.070 0.714 7 1999 2014
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.030 1.000 3 2003 2009
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2006 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2012 2017
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.030 1.000 3 2003 2009
dbSNP: rs10494366
rs10494366
NOS1AP ; LOC105371475
7 0.851 0.200 1 162115895 intron variant G/T snv 0.54 0.020 1.000 2 2010 2019
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.020 0.500 2 2007 2012
dbSNP: rs10911021
rs10911021
LINC01344 ; LOC105371642
11 0.807 0.160 1 182112825 intron variant C/T snv 0.36 0.020 1.000 2 2013 2018
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2015
dbSNP: rs2275703
rs2275703
CASQ1
3 0.925 0.080 1 160195305 intron variant A/C snv 0.38 0.020 0.500 2 2007 2013
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.020 1.000 2 2012 2018
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.020 0.500 2 2011 2016
dbSNP: rs8192284
rs8192284
IL6R
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.020 1.000 2 2007 2009
dbSNP: rs9333025
rs9333025
CYP4A11
8 0.851 0.200 1 46931231 intron variant C/T snv 9.4E-02 0.020 1.000 2 2016 2017
dbSNP: rs1042488900
rs1042488900
ATF6
2 1.000 0.040 1 161802188 synonymous variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs10489177
rs10489177
C1orf112 ; METTL18
4 0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19 0.010 1.000 1 2014 2014
dbSNP: rs1060366
rs1060366
ATP1A1
2 1.000 0.040 1 116384040 synonymous variant A/G snv 1.3E-03 1.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs11207997
rs11207997
ANGPTL3 ; DOCK7
6 1 62596235 intron variant C/T snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs1131498
rs1131498
SELL ; C1orf112
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2000 2000
dbSNP: rs11574
rs11574
ID3
2 1.000 0.040 1 23559007 missense variant T/A;C snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2010 2010
dbSNP: rs12144939
rs12144939
CFH
3 0.925 0.080 1 196729815 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12733285
rs12733285
ADIPOR1
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.010 < 0.001 1 2012 2012