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: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.800 1.000 12 2008 2019
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.800 1.000 10 2008 2019
dbSNP: rs4299376
rs4299376
ABCG8 ; LOC102725159
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.800 1.000 9 2010 2019
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.800 1.000 7 2008 2019
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.800 1.000 7 2010 2019
dbSNP: rs4722551
rs4722551
LOC105375199
5 7 25952206 upstream gene variant T/C;G snv 0.800 1.000 6 2013 2019
dbSNP: rs1065853
rs1065853 		5 19 44909976 non coding transcript exon variant G/A;C;T snv 0.800 1.000 5 2013 2019
dbSNP: rs1801689
rs1801689
APOH
7 17 66214462 missense variant A/C;G snv 4.0E-06; 2.4E-02; 4.8E-05 0.800 1.000 5 2012 2018
dbSNP: rs2072183
rs2072183
NPC1L1
6 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.800 1.000 5 2010 2019
dbSNP: rs635634
rs635634 		22 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 0.800 1.000 5 2010 2019
dbSNP: rs2228671
rs2228671
LDLR
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.800 1.000 4 2008 2019
dbSNP: rs2328223
rs2328223 		3 20 17865277 intergenic variant A/C;G;T snv 0.800 1.000 4 2013 2019
dbSNP: rs4245791
rs4245791
ABCG8
8 0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv 0.800 1.000 4 2013 2019
dbSNP: rs507666
rs507666
ABO
8 1.000 0.040 9 133273983 intron variant A/G snv 0.700 1.000 4 2013 2019
dbSNP: rs6657811
rs6657811
CELSR2
4 1 109264661 intron variant A/C;T snv 4.0E-06; 0.10 0.800 1.000 4 2008 2019
dbSNP: rs676210
rs676210
APOB
12 0.925 0.120 2 21008652 missense variant G/A;T snv 0.29 0.800 1.000 4 2012 2018
dbSNP: rs11806638
rs11806638
PCSK9
3 1 55052487 intron variant C/A;G snv 0.800 1.000 3 2012 2019
dbSNP: rs1501908
rs1501908 		5 1.000 0.040 5 156971158 intergenic variant G/A;C;T snv 0.800 1.000 3 2009 2019
dbSNP: rs2255141
rs2255141
GPAM
5 10 112174128 intron variant A/G;T snv 0.800 1.000 3 2010 2018
dbSNP: rs2618566
rs2618566 		2 20 17864040 intergenic variant G/C;T snv 0.700 1.000 3 2018 2019
dbSNP: rs28362286
rs28362286
PCSK9
6 0.851 0.080 1 55063542 stop gained C/A;T snv 5.6E-04 0.700 1.000 3 2014 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2012 2018
dbSNP: rs445925
rs445925
APOC1
10 0.882 0.080 19 44912383 non coding transcript exon variant G/A;C snv 0.800 1.000 3 2011 2017
dbSNP: rs550057
rs550057
ABO
11 0.925 0.080 9 133271182 intron variant T/A;C snv 0.700 1.000 3 2015 2019
dbSNP: rs10260606
rs10260606 		3 7 44544952 upstream gene variant G/A;C snv 0.800 1.000 2 2012 2018