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 0.870 23 1996 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.850 20 1995 2016
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.060 1.000 6 2005 2019
dbSNP: rs5174
rs5174
LRP8
10 0.776 0.240 1 53247055 missense variant C/T snv 0.29 0.28 0.060 0.833 6 2007 2014
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.060 0.833 6 2008 2015
dbSNP: rs17465637
rs17465637
MIA3
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.840 1.000 5 2008 2012
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.050 0.800 5 2001 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2003 2019
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.040 0.750 4 1998 2014
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 0.040 0.750 4 1998 2014
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.030 0.333 3 2006 2007
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.810 1.000 3 2009 2017
dbSNP: rs5177
rs5177
LRP8
6 0.851 0.120 1 53246063 3 prime UTR variant G/A;C snv 0.030 0.667 3 2008 2014
dbSNP: rs6131
rs6131
SELP
4 0.851 0.200 1 169611647 missense variant C/T snv 0.20 0.22 0.030 1.000 3 2002 2016
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 1.000 2 2010 2016
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2006 2019
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.020 0.500 2 2006 2009
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.020 1.000 2 2017 2020
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.020 1.000 2 1999 2015
dbSNP: rs6003
rs6003
F13B
5 0.851 0.240 1 197061891 missense variant C/T snv 0.88 0.76 0.020 1.000 2 2007 2015
dbSNP: rs6136
rs6136
SELP
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.020 1.000 2 2002 2014
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.810 1.000 2 2009 2012
dbSNP: rs10733113
rs10733113 		3 0.882 0.160 1 247459055 upstream gene variant A/G snv 0.81 0.010 1.000 1 2016 2016
dbSNP: rs10788952
rs10788952
LRP8
1 1.000 0.080 1 53272428 non coding transcript exon variant C/T snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs10889160
rs10889160
CYP2J2
1 1.000 0.080 1 59896449 intron variant T/C snv 0.23 0.010 1.000 1 2008 2008