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: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.830 1.000 7 2011 2016
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.830 1.000 7 2011 2018
dbSNP: rs76863441
rs76863441
PLA2G7
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.760 0.714 7 2009 2017
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.070 1.000 7 2012 2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.070 0.857 7 2001 2013
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.070 0.857 7 2009 2019
dbSNP: rs5882
rs5882
CETP
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.070 1.000 7 1998 2019
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.830 1.000 6 2011 2018
dbSNP: rs9349379
rs9349379
PHACTR1
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.820 1.000 6 2011 2019
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.750 1.000 6 2007 2018
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.060 1.000 6 2006 2011
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.060 1.000 6 1998 2013
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.060 1.000 6 2010 2018
dbSNP: rs7493
rs7493
PON2
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.060 0.667 6 1998 2018
dbSNP: rs174547
rs174547
FADS1 ; FADS2
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.830 1.000 5 2011 2019
dbSNP: rs2943634
rs2943634 		15 0.763 0.200 2 226203364 intergenic variant A/C;G snv 0.830 1.000 5 2007 2012
dbSNP: rs6922269
rs6922269
MTHFD1L
7 0.807 0.200 6 150931849 intron variant G/A snv 0.35 0.830 1.000 5 2007 2014
dbSNP: rs1122608
rs1122608
SMARCA4
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.820 1.000 5 2011 2016
dbSNP: rs1333042
rs1333042
CDKN2B-AS1
7 0.827 0.120 9 22103814 intron variant A/G snv 0.63 0.820 1.000 5 2011 2016
dbSNP: rs11556924
rs11556924
ZC3HC1
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.810 1.000 5 2011 2017
dbSNP: rs16139
rs16139
NPY ; LOC107986777
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.050 1.000 5 2002 2013
dbSNP: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.050 1.000 5 2000 2013
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.050 0.600 5 2007 2016
dbSNP: rs2277923
rs2277923
NKX2-5
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.050 1.000 5 2013 2016
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.050 0.800 5 2001 2011