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: rs35414700
rs35414700
LPL
2 1.000 0.080 8 19955901 missense variant T/G snv 1.2E-05 1.4E-05 0.020 1.000 2 2000 2018
dbSNP: rs1378577
rs1378577
ABCG1
2 1.000 0.080 21 42199555 upstream gene variant T/G snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs3758538
rs3758538
RBP4 ; FFAR4
2 1.000 0.080 10 93602293 intron variant T/G snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs4635554
rs4635554 		1 2 21166787 intergenic variant T/G snv 0.37 0.800 1.000 1 2010 2010
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.820 0.750 4 2010 2016
dbSNP: rs11206517
rs11206517
PCSK9
4 1.000 0.120 1 55060755 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.040 0.750 4 1993 2004
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.730 1.000 4 2010 2017
dbSNP: rs11635252
rs11635252
CRTC3
4 0.925 0.080 15 90528542 upstream gene variant T/C snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs146515657
rs146515657
USP4
1 3 49292533 missense variant T/C snv 1.1E-04 3.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs17782313
rs17782313 		34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
21 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 0.010 1.000 1 2014 2014
dbSNP: rs2074755
rs2074755
BAZ1B
20 0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs2250656
rs2250656
C3
4 0.882 0.160 19 6718523 intron variant T/C snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs2569512
rs2569512
ILF3
5 0.925 0.080 19 10679486 intron variant T/C snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs4646234
rs4646234
SLC15A1
2 1.000 0.040 13 98684126 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs4845625
rs4845625
IL6R
9 0.851 0.080 1 154449591 intron variant T/C snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs6929846
rs6929846
BTN2A1
10 0.827 0.160 6 26458037 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs7350481
rs7350481 		8 0.882 0.040 11 116715567 regulatory region variant T/C snv 0.93 0.010 1.000 1 2017 2017
dbSNP: rs773641005
rs773641005
GOT2
14 0.742 0.240 16 58723829 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs780093
rs780093
GCKR
30 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2007 2007
dbSNP: rs1799883
rs1799883
FABP2
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.030 1.000 3 2006 2016
dbSNP: rs2241220
rs2241220
ACACB
2 1.000 0.040 12 109237224 synonymous variant T/A;C;G snv 4.0E-06; 0.83 0.010 1.000 1 2008 2008