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 0.914 70 1997 2017
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.800 0.900 20 1997 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.800 15 2001 2020
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.100 1.000 10 2008 2017
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.090 1.000 9 1998 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.080 1.000 8 1999 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 0.080 0.875 8 2001 2011
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.070 0.857 7 2001 2009
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.060 1.000 6 2006 2011
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.730 1.000 6 2010 2019
dbSNP: rs17465637
rs17465637
MIA3
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.750 1.000 6 2011 2019
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.050 0.600 5 1997 2013
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.050 1.000 5 2009 2020
dbSNP: rs5174
rs5174
LRP8
10 0.776 0.240 1 53247055 missense variant C/T snv 0.29 0.28 0.050 1.000 5 2007 2014
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.040 1.000 4 1995 2018
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.720 1.000 3 2010 2015
dbSNP: rs12740374
rs12740374
CELSR2
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.710 1.000 3 2018 2018
dbSNP: rs17114036
rs17114036
PLPP3
5 0.851 0.120 1 56497149 intron variant A/G snv 0.11 0.710 1.000 3 2013 2018
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.030 1.000 3 2012 2016
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.030 1.000 3 2009 2014
dbSNP: rs3890011
rs3890011
CYP4A11
3 0.925 0.040 1 46933071 intron variant G/C snv 0.71 0.65 0.030 1.000 3 2013 2018
dbSNP: rs5065
rs5065
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21 0.030 1.000 3 2012 2014
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: rs6136
rs6136
SELP
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.030 1.000 3 2001 2014
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.720 1.000 3 2014 2019