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: 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: rs10808546
rs10808546 		7 8 125483576 intron variant C/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs10911205
rs10911205
LAMC1
1 1 183040142 intron variant C/A snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs10911232
rs10911232
LAMC1
1 1 183083398 intron variant C/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs1169310
rs1169310
HNF1A ; C12orf43
3 12 121001630 3 prime UTR variant G/A snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs1169313
rs1169313
C12orf43
6 12 121004867 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs120074114
rs120074114
APOC2 ; APOC4-APOC2
2 19 44948767 missense variant A/C snv 6.9E-04 7.0E-04 0.010 1.000 1 1995 1995
dbSNP: rs12453407
rs12453407
ACACA
1 17 37232521 intron variant A/G snv 0.65 0.010 1.000 1 2009 2009
dbSNP: rs1263163
rs1263163 		2 11 116802796 intergenic variant G/A snv 0.10 0.010 1.000 1 2017 2017
dbSNP: rs1266175
rs1266175
ACACA
1 17 37111115 intron variant A/G snv 0.54 0.010 1.000 1 2009 2009
dbSNP: rs1289389
rs1289389
SLC15A1
2 13 98684036 3 prime UTR variant C/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1414423445
rs1414423445
CREB3L3
1 19 4171402 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 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: 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: rs1558861
rs1558861 		5 11 116736721 regulatory region variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs2001945
rs2001945 		10 8 125465736 upstream gene variant G/A;C;T snv 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: rs2229416
rs2229416
ACACA
1 17 37252940 synonymous variant C/T snv 0.18 0.12 0.010 1.000 1 2009 2009
dbSNP: rs2293869
rs2293869
RP1
1 8 54626835 missense variant A/T snv 0.34 0.33 0.010 1.000 1 2003 2003
dbSNP: rs2425955
rs2425955
NCOA3
1 20 47540255 intron variant G/T snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs3825041
rs3825041
BUD13
2 11 116760991 intron variant T/A;C snv 0.89 0.700 1.000 1 2017 2017
dbSNP: rs4635554
rs4635554 		1 2 21166787 intergenic variant T/G snv 0.37 0.800 1.000 1 2010 2010
dbSNP: rs5072
rs5072
APOA1 ; APOA1-AS
5 11 116836867 intron variant A/G snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs5104
rs5104
APOA4
2 11 116821618 missense variant C/T snv 0.80 0.85 0.010 1.000 1 2019 2019
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