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: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.080 1.000 8 1997 2011
dbSNP: rs1022113606
rs1022113606
SOD3
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.040 1.000 4 2000 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2002 2018
dbSNP: rs1799895
rs1799895
SOD3
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.040 1.000 4 2000 2016
dbSNP: rs118204057
rs118204057
LPL
16 0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04 0.030 1.000 3 1997 2002
dbSNP: rs1320702652
rs1320702652
MFAP1
11 0.752 0.160 15 43824536 missense variant G/A snv 4.0E-06 0.030 1.000 3 2003 2014
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 0.667 3 2003 2008
dbSNP: rs1801177
rs1801177
LPL
14 0.742 0.240 8 19948197 missense variant G/A;C snv 1.4E-02; 2.0E-05 0.030 1.000 3 1999 2000
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 < 0.001 2 2001 2003
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2017 2018
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2006 2006
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs10761741
rs10761741
JMJD1C
4 1.000 0.040 10 63306426 intron variant G/T snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs10903323
rs10903323
MSRA
8 0.807 0.160 8 10292057 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs11053646
rs11053646
OLR1
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2003 2003
dbSNP: rs11234027
rs11234027
NADSYN1
5 0.882 0.080 11 71523061 intron variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2009 2009
dbSNP: rs1144507
rs1144507
ZNF202
2 0.925 0.080 11 123729767 missense variant A/C;G;T snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs114694170
rs114694170
MEF2C ; MEF2C-AS1
5 1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2010 2010