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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 1999 2020
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.090 1.000 9 1999 2018
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.730 1.000 4 1998 2016
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: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.020 1.000 2 2018 2019
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: 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: rs113092656
rs113092656 		5 0.882 0.120 6 11615072 intergenic variant G/A snv 2.6E-02 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: 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: rs1164821473
rs1164821473
F5
2 0.925 0.080 1 169546573 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs121918156
rs121918156
PROC ; LOC105373608
3 0.882 0.120 2 127427219 missense variant C/T snv 0.700 1.000 1 2019 2019
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: 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: 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: rs1321566264
rs1321566264
PROC ; LOC105373608
2 0.925 0.120 2 127428522 missense variant C/T snv 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs1487411568
rs1487411568
SERPINC1 ; ZBTB37
2 0.925 0.120 1 173903969 missense variant G/A;T snv 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1553424043
rs1553424043
PROC ; MIR4783
3 0.925 0.120 2 127423123 missense variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs17490626
rs17490626
TSPAN15
5 0.882 0.120 10 69458890 intron variant G/C snv 8.4E-02 0.700 1.000 1 2016 2016
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: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs2089252
rs2089252 		1 1.000 0.040 4 75909495 downstream gene variant T/C snv 2.5E-02 0.010 1.000 1 2016 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: rs2227589
rs2227589
SERPINC1
3 0.925 0.120 1 173917078 intron variant C/T snv 9.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs2227721
rs2227721
VTN ; SARM1
2 0.925 0.080 17 28370430 intron variant C/A;T snv 0.12 0.010 1.000 1 2013 2013