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: rs1558861
rs1558861 		5 11 116736721 regulatory region variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs17514846
rs17514846
FURIN
7 0.882 0.120 15 90873320 intron variant C/A;G snv 0.010 1.000 1 2015 2015
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: rs1800588
rs1800588
LIPC ; ALDH1A2
16 0.790 0.200 15 58431476 intron variant C/G;T snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1801177
rs1801177
LPL
14 0.742 0.240 8 19948197 missense variant G/A;C snv 1.4E-02; 2.0E-05 0.010 < 0.001 1 2000 2000
dbSNP: rs2001945
rs2001945 		10 8 125465736 upstream gene variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs201079485
rs201079485
ZPR1 ; APOA5
4 0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06 0.010 1.000 1 2012 2012
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
dbSNP: rs2259816
rs2259816
HNF1A
8 0.827 0.280 12 120997784 synonymous variant G/A;T snv 6.7E-06; 0.40 0.010 1.000 1 2014 2014
dbSNP: rs2297322
rs2297322
SLC15A1
4 1.000 0.040 13 98723927 missense variant C/G;T snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs2454727
rs2454727
HCAR2
3 0.925 0.040 12 122702333 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs3825041
rs3825041
BUD13
2 11 116760991 intron variant T/A;C snv 0.89 0.700 1.000 1 2017 2017
dbSNP: rs3829365
rs3829365
POSTN
3 0.925 0.040 13 37598759 5 prime UTR variant G/A;C snv 4.0E-06; 0.11 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs4846913
rs4846913
GALNT2
4 1.000 0.120 1 230158968 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs573658040
rs573658040
APOE
9 0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06 0.010 1.000 1 1998 1998
dbSNP: rs574363219
rs574363219
ZPR1 ; APOA5
2 1.000 0.040 11 116790427 missense variant C/T snv 1.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs587777636
rs587777636
GPIHBP1
4 0.882 0.080 8 143213935 missense variant G/A;C snv 6.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs59914820
rs59914820
LMNA
3 0.925 0.160 1 156115000 missense variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6074
rs6074
LIPC
1 15 58568764 synonymous variant C/A;G snv 0.19; 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs615563
rs615563
PCSK9
2 1.000 0.120 1 55060623 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs6782181
rs6782181
MRAS
6 0.851 0.160 3 138386212 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs7310409
rs7310409
HNF1A
7 0.925 0.160 12 120987058 intron variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs7314976
rs7314976
HCAR2
3 0.925 0.040 12 122702353 missense variant G/A;C snv 3.9E-02; 4.5E-06 0.010 1.000 1 2017 2017
dbSNP: rs748349562
rs748349562
LPL
2 1.000 0.080 8 19954131 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018