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: rs121908686
rs121908686
PLA2G6 ; BAIAP2L2
6 0.882 0.120 22 38112558 missense variant C/T snv 9.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs1369837875
rs1369837875
PLA2G6
4 0.882 0.200 22 38128276 synonymous variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs370975770
rs370975770
PLA2G6
1 1.000 0.080 22 38115666 missense variant C/T snv 8.9E-06 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs766760828
rs766760828
PLA2G6
1 1.000 0.080 22 38140060 missense variant A/G snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs751437628
rs751437628
THBD
1 1.000 0.080 20 23048698 synonymous variant G/A;C snv 9.9E-06; 9.9E-06 0.010 1.000 1 2006 2006
dbSNP: rs141012637
rs141012637
SERPINB2 ; SERPINB10
4 0.851 0.320 18 63901881 stop gained C/A;T snv 7.0E-05 0.020 0.500 2 2009 2015
dbSNP: rs5918
rs5918
ITGB3
26 0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 0.010 1.000 1 2005 2005
dbSNP: rs911028477
rs911028477
IL4R
2 1.000 0.080 16 27362773 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.100 0.912 34 1998 2019
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.100 0.970 33 1999 2019
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.100 1.000 12 1998 2019
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs780225764
rs780225764
F2
2 1.000 0.080 11 46726797 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs866316103
rs866316103
PC
1 1.000 0.080 11 66872069 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs368927897
rs368927897
JAK2 ; INSL6
9 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs777692567
rs777692567
PLAT
5 0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.040 0.750 4 2006 2015
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 1999 1999
dbSNP: rs747418061
rs747418061
APC
10 0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06 0.040 1.000 4 1995 2017
dbSNP: rs1371086615
rs1371086615
APC
4 0.851 0.120 5 112828890 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010