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: 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: 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: rs879254693
rs879254693
LDLR
7 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.010 1.000 1 1998 1998
dbSNP: rs2074388
rs2074388
ALPK1
3 1.000 4 112431241 missense variant G/A snv 0.62 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2074379
rs2074379
ALPK1
3 1.000 4 112431743 missense variant G/A snv 0.62 0.65 0.010 1.000 1 2015 2015
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2010 2015
dbSNP: rs11773845
rs11773845
CAV1
4 0.925 0.120 7 116551247 intron variant C/A snv 0.53 0.010 1.000 1 2018 2018
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: rs1558861
rs1558861 		5 11 116736721 regulatory region variant C/G;T snv 0.700 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: rs2187126
rs2187126
BUD13
2 11 116765068 intron variant A/G snv 4.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs10790162
rs10790162
BUD13
7 0.882 0.160 11 116768388 intron variant A/G;T snv 0.93 0.010 1.000 1 2017 2017
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.830 1.000 6 2010 2019
dbSNP: rs143292359
rs143292359
ZPR1 ; APOA5
1 11 116790285 missense variant G/A snv 5.9E-04 5.0E-04 0.010 < 0.001 1 2008 2008
dbSNP: rs149808404
rs149808404
ZPR1 ; APOA5
1 11 116790406 stop gained G/A;C snv 4.1E-05; 8.1E-06 0.020 1.000 2 2014 2019
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: rs774006043
rs774006043
ZPR1 ; APOA5
3 0.925 0.080 11 116790561 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs2075291
rs2075291
ZPR1 ; APOA5
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.080 1.000 8 2003 2018
dbSNP: rs777046568
rs777046568
ZPR1 ; APOA5
2 1.000 0.080 11 116790802 frameshift variant G/- del 6.0E-05 7.0E-06 0.010 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: rs3135506
rs3135506
APOA5
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.050 1.000 5 2007 2012
dbSNP: rs651821
rs651821
APOA5
17 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.010 1.000 1 2019 2019
dbSNP: rs662799
rs662799
APOA5
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2018 2018
dbSNP: rs633389
rs633389 		4 1.000 0.040 11 116796621 upstream gene variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1263163
rs1263163 		2 11 116802796 intergenic variant G/A snv 0.10 0.010 1.000 1 2017 2017