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: rs1251035592
rs1251035592
CYP3A5 ; ZSCAN25
1 1.000 0.040 7 99664039 missense variant T/C snv 4.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs1341991169
rs1341991169
LPL
1 1.000 0.040 8 19939444 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1444332461
rs1444332461
ARSA
1 1.000 0.040 22 50627185 missense variant A/G snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs3829462
rs3829462
LIPC
1 1.000 0.040 15 58560880 missense variant C/A;T snv 0.97 0.010 1.000 1 1999 1999
dbSNP: rs886916693
rs886916693
KIDINS220
1 1.000 0.040 2 8806360 missense variant T/C snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs974389711
rs974389711
APOA1 ; APOA1-AS
1 1.000 0.040 11 116836210 synonymous variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121918392
rs121918392
APOE
2 0.925 0.040 19 44907777 missense variant G/A snv 3.6E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs8450
rs8450
DENND4B ; CRTC2
2 1.000 0.040 1 153947810 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1941404
rs1941404
NNMT
3 0.882 0.120 11 114298316 non coding transcript exon variant A/G snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs4713518
rs4713518
TSBP1 ; TSBP1-AS1
3 0.925 0.160 6 32289560 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6078
rs6078
LIPC
3 0.882 0.120 15 58541794 missense variant G/A;T snv 7.1E-02; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs632793
rs632793 		3 0.882 0.120 1 11850620 upstream gene variant A/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs920435389
rs920435389
FGFR4
3 1.000 0.040 5 177091064 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs198388
rs198388
NPPB
4 0.851 0.160 1 11857283 downstream gene variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2222823
rs2222823
MYLK
4 0.925 0.080 3 123885940 upstream gene variant T/A snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs10748835
rs10748835
AS3MT ; BORCS7-ASMT ; LOC107984265
5 0.827 0.160 10 102900499 non coding transcript exon variant G/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs121964971
rs121964971
CBS
5 0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs140808909
rs140808909
APOE
5 0.851 0.120 19 44909080 missense variant G/A snv 2.0E-04 5.6E-05 0.010 1.000 1 1999 1999
dbSNP: rs150599989
rs150599989
C5AR2
5 0.827 0.320 19 47341767 missense variant G/A;C;T snv 4.0E-06; 9.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs2302685
rs2302685
LRP6 ; BCL2L14
5 0.827 0.240 12 12148964 missense variant C/T snv 0.85 0.84 0.010 1.000 1 2018 2018
dbSNP: rs2811712
rs2811712
CDKN2B-AS1
5 0.882 0.080 9 21998036 intron variant G/A snv 0.85 0.010 1.000 1 2012 2012
dbSNP: rs498005
rs498005
HCN4
5 0.851 0.160 15 73327969 intron variant C/T snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs7744
rs7744
MYD88
5 0.827 0.160 3 38142530 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs879254840
rs879254840
LDLR ; MIR6886
5 0.827 0.120 19 11113322 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs200960801
rs200960801
ESR1
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2010 2010