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: rs13306505
rs13306505
LDLR
2 0.925 0.080 19 11131312 missense variant C/A;T snv 5.2E-05 0.010 1.000 1 2020 2020
dbSNP: rs746118995
rs746118995
LDLR
5 0.882 0.080 19 11120143 missense variant C/T snv 1.2E-05 2.8E-05 0.810 1.000 9 1997 2019
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs12526453
rs12526453
PHACTR1
5 0.827 0.160 6 12927312 intron variant C/G snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs143394031
rs143394031
PCSK9
2 0.925 0.080 1 55058640 missense variant G/A;C;T snv 1.6E-05; 4.9E-05; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs151009667
rs151009667
APOB
2 0.925 0.080 2 21011802 missense variant C/T snv 1.3E-03 1.4E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs2048327
rs2048327
SLC22A3
5 0.851 0.120 6 160442500 intron variant T/C snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs515135
rs515135 		9 0.807 0.160 2 21063185 intergenic variant T/C snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2019 2019
dbSNP: rs693
rs693
APOB
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.010 1.000 1 2019 2019
dbSNP: rs730882088
rs730882088
LDLR
1 1.000 0.080 19 11106660 missense variant A/C;G snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs749466528
rs749466528
MTTP
1 1.000 0.080 4 99611192 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs875989921
rs875989921
LDLR ; MIR6886
3 0.882 0.080 19 11113624 stop gained G/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs879254907
rs879254907
LDLR ; MIR6886
3 0.882 0.080 19 11113625 stop gained G/A;C;T snv 0.710 < 0.001 1 2019 2019
dbSNP: rs879254965
rs879254965
LDLR
7 0.827 0.200 19 11116140 missense variant G/A;C;T snv 0.710 < 0.001 1 2019 2019
dbSNP: rs28942084
rs28942084
LDLR
11 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.880 1.000 38 1989 2018
dbSNP: rs138947766
rs138947766
LDLR
6 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.830 1.000 34 1989 2018
dbSNP: rs773658037
rs773658037
LDLR ; MIR6886
4 0.882 0.160 19 11113338 missense variant G/A;C;T snv 1.6E-05 0.810 1.000 12 2004 2018
dbSNP: rs137852912
rs137852912
PCSK9
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.740 1.000 4 2009 2018
dbSNP: rs1333047
rs1333047
CDKN2B-AS1
9 0.790 0.240 9 22124505 intron variant A/T snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.010 1.000 1 2018 2018
dbSNP: rs7412
rs7412
APOE
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs875989928
rs875989928
LDLR
2 0.925 0.080 19 11116884 stop gained G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs879254518
rs879254518
LDLR
4 0.925 0.080 19 11105322 missense variant A/G;T snv 0.710 1.000 1 2018 2018