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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
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 2000 2000
dbSNP: rs747418061
rs747418061
APC
10 0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06 0.020 1.000 2 1995 2003
dbSNP: rs1800576
rs1800576
THBD
4 0.925 0.080 20 23049378 missense variant C/T snv 2.0E-03 2.5E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 < 0.001 1 2006 2006
dbSNP: rs1432422306
rs1432422306
FGA
3 0.925 0.120 4 154586432 frameshift variant TTCCAGT/- del 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
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: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs555743307
rs555743307
IL4R
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.010 1.000 1 2006 2006
dbSNP: rs7080536
rs7080536
HABP2 ; NRAP
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs911028477
rs911028477
IL4R
2 1.000 0.080 16 27362773 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.020 1.000 2 1999 2007
dbSNP: rs775421447
rs775421447
F5
1 1 169542947 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs776445885
rs776445885
F2
2 11 46728086 synonymous variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs782570472
rs782570472
ABO
1 9 133256068 synonymous variant G/A snv 1.9E-05 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs6136
rs6136
SELP
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.020 1.000 2 2007 2008
dbSNP: rs1312546120
rs1312546120
F5
7 0.807 0.160 1 169541191 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2008 2008
dbSNP: rs774723292
rs774723292
LDLR
4 1.000 0.080 19 11105249 missense variant C/T snv 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2009 2009
dbSNP: rs1181835738
rs1181835738
ACE
1 17 63490971 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2009 2009
dbSNP: rs1800775
rs1800775
CETP
18 0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06 0.010 1.000 1 2009 2009
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2009 2009