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 0.070 1.000 7 2005 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.040 0.750 4 2011 2018
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.030 1.000 3 2009 2014
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 0.667 3 2002 2015
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.020 1.000 2 2004 2014
dbSNP: rs1076991
rs1076991
MTHFD1
2 0.925 0.200 14 64388323 5 prime UTR variant T/C;G snv 0.45; 8.1E-06 0.020 1.000 2 2016 2016
dbSNP: rs1255283120
rs1255283120
MTHFR
7 0.807 0.160 1 11792345 missense variant G/A snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2016
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.020 1.000 2 2003 2010
dbSNP: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.020 1.000 2 2001 2002
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2000 2007
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 2010 2011
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs1049194905
rs1049194905
SCN5A
2 0.925 0.080 3 38604063 synonymous variant A/G snv 0.010 1.000 1 2020 2020
dbSNP: rs1050286
rs1050286
OLR1
3 0.882 0.160 12 10158964 3 prime UTR variant T/C snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs1051931
rs1051931
PLA2G7
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 1.000 1 2015 2015
dbSNP: rs1053874
rs1053874
DNASE1 ; TRAP1
7 0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1064039
rs1064039
CST3
6 0.827 0.200 20 23637790 missense variant C/G;T snv 0.20 0.010 1.000 1 2005 2005
dbSNP: rs11053646
rs11053646
OLR1
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2010 2010
dbSNP: rs1122608
rs1122608
SMARCA4
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs112443954
rs112443954
SIRT5 ; LOC105374937
1 1.000 0.080 6 13574259 upstream gene variant G/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1131012
rs1131012
PECAM1
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.010 1.000 1 2004 2004
dbSNP: rs1140713
rs1140713
EGFL7 ; MIR126
1 1.000 0.080 9 136670833 intron variant C/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs11571836
rs11571836
BRCA2
6 0.827 0.200 13 32399302 3 prime UTR variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1175571390
rs1175571390
ITGA2
1 1.000 0.080 5 53056071 missense variant T/C snv 0.010 1.000 1 2012 2012