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 0.080 0.875 8 2001 2016
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.020 0.500 2 2005 2016
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.020 1.000 2 2005 2009
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 2009 2018
dbSNP: rs11171806
rs11171806
IL23A
7 0.807 0.360 12 56339747 synonymous variant G/A snv 4.9E-02 4.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs1363677860
rs1363677860
TP63
1 1.000 0.120 3 189864335 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs141012637
rs141012637
SERPINB2 ; SERPINB10
4 0.851 0.320 18 63901881 stop gained C/A;T snv 7.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs2397084
rs2397084
IL17F
14 0.716 0.480 6 52237046 missense variant T/C snv 6.7E-02 6.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs398124629
rs398124629
APOH
2 0.925 0.120 17 66228149 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2016 2016
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs764734814
rs764734814
PRH1 ; PRH2 ; PRR4 ; PRH1-PRR4
2 0.925 0.120 12 10930676 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs781289974
rs781289974
PROCR ; MMP24-AS1-EDEM2
1 1.000 0.120 20 35176773 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009