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: 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: rs12453407
rs12453407
ACACA
1 17 37232521 intron variant A/G snv 0.65 0.010 1.000 1 2009 2009
dbSNP: rs1266175
rs1266175
ACACA
1 17 37111115 intron variant A/G snv 0.54 0.010 1.000 1 2009 2009
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: 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: rs4635554
rs4635554 		1 2 21166787 intergenic variant T/G snv 0.37 0.800 1.000 1 2010 2010
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: rs6094753
rs6094753
NCOA3
1 20 47630030 intron variant G/A snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs672059
rs672059
LAMC2
1 1 183193404 intron variant G/A snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs754698878
rs754698878
LMF1
1 16 869919 stop gained G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs759009903
rs759009903
ACE
1 17 63484413 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs912378886
rs912378886
CREB3L3
1 19 4155009 stop gained G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs9906543
rs9906543
ACACA
1 17 37162308 intron variant T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs35414700
rs35414700
LPL
2 1.000 0.080 8 19955901 missense variant T/G snv 1.2E-05 1.4E-05 0.020 1.000 2 2000 2018
dbSNP: rs11122316
rs11122316
GALNT2
2 1.000 0.120 1 230101356 intron variant A/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs11576175
rs11576175
CTSS
2 1.000 1 150754918 intron variant G/A snv 7.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs11634397
rs11634397 		2 1.000 0.080 15 80139880 downstream gene variant A/G snv 0.57 0.010 1.000 1 2015 2015
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: rs1263163
rs1263163 		2 11 116802796 intergenic variant G/A snv 0.10 0.010 1.000 1 2017 2017