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: rs6441600
rs6441600
PROS1
1 1.000 0.040 3 93956895 intron variant C/G snv 0.97 0.010 1.000 1 2019 2019
dbSNP: rs1613662
rs1613662
GP6 ; LOC107985325
8 0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83 0.010 1.000 1 2008 2008
dbSNP: rs1926447
rs1926447
CPB2 ; CPB2-AS1
11 0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77 0.010 1.000 1 2006 2006
dbSNP: rs13146272
rs13146272
CYP4V2
3 1.000 0.040 4 186199057 missense variant C/A snv 0.57 0.61 0.010 1.000 1 2008 2008
dbSNP: rs2036914
rs2036914
F11
5 0.882 0.160 4 186271327 intron variant T/C snv 0.57 0.020 1.000 2 2009 2016
dbSNP: rs2097055
rs2097055
LIPG
2 0.925 0.040 18 49569117 intron variant T/C snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs6507931
rs6507931
LIPG
3 0.882 0.080 18 49586638 intron variant C/T snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs13062355
rs13062355
PROS1
1 1.000 0.040 3 93969667 intron variant G/A snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 0.500 2 2008 2018
dbSNP: rs1799810
rs1799810
PROC
5 1.000 0.040 2 127418464 5 prime UTR variant A/T snv 0.38 0.44 0.010 1.000 1 2019 2019
dbSNP: rs34234989
rs34234989
PROCR ; MMP24-AS1-EDEM2
5 0.882 0.120 20 35186731 intron variant A/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs1131012
rs1131012
PECAM1
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs12953
rs12953
PECAM1
9 0.763 0.200 17 64356203 missense variant C/A;T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs2289252
rs2289252
F11 ; F11-AS1
4 1.000 0.040 4 186286227 non coding transcript exon variant C/T snv 0.35 0.030 1.000 3 2009 2016
dbSNP: rs3742264
rs3742264
CPB2 ; CPB2-AS1
17 0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35 0.010 1.000 1 2006 2006
dbSNP: rs12634349
rs12634349
PROS1
1 1.000 0.040 3 93882955 intron variant A/G snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs1799808
rs1799808
PROC
3 1.000 0.040 2 127418286 upstream gene variant C/T snv 0.33 0.010 1.000 1 2019 2019
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 2019 2019
dbSNP: rs7654093
rs7654093 		6 0.882 0.120 4 154623920 upstream gene variant A/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs2066865
rs2066865
FGG
10 0.807 0.240 4 154604124 downstream gene variant G/A snv 0.26 0.020 1.000 2 2007 2010
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 2019 2019
dbSNP: rs114209171
rs114209171
FUNDC2
5 0.882 0.120 X 155050522 non coding transcript exon variant T/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs2000813
rs2000813
LIPG
9 0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23 0.010 < 0.001 1 2010 2010
dbSNP: rs6048
rs6048
F9
2 1.000 0.040 X 139551121 missense variant A/G snv 0.22 0.23 0.010 1.000 1 2009 2009
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008