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: 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: 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: 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: rs137853964
rs137853964
LDLR
4 0.925 0.080 19 11129602 missense variant G/A;T snv 1.0E-03 0.710 1.000 1 2017 2017
dbSNP: rs374603772
rs374603772
PCSK9
9 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.710 1.000 1 2017 2017
dbSNP: rs137853963
rs137853963
LDLR
1 1.000 0.080 19 11123264 missense variant G/A snv 8.6E-04 6.8E-04 0.700 1.000 1 2016 2016
dbSNP: rs150673992
rs150673992
LDLR
3 1.000 0.080 19 11106627 missense variant C/T snv 1.9E-04 4.5E-04 0.700 1.000 1 2016 2016
dbSNP: rs200533979
rs200533979
LDLR ; MIR6886
1 1.000 0.080 19 11111541 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs3846662
rs3846662
HMGCR
12 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 0.010 1.000 1 2016 2016
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs749220643
rs749220643
LDLR
1 1.000 0.080 19 11106681 missense variant G/A snv 2.4E-05 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs793888521
rs793888521
PCSK9
1 1.000 0.080 1 55052364 missense variant G/A snv 2.0E-05 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs793888522
rs793888522
STAP1
1 1.000 0.080 4 67571102 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs879254443
rs879254443
LDLR
1 1.000 0.080 19 11102708 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs879254503
rs879254503
LDLR
1 1.000 0.080 19 11105286 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs879254669
rs879254669
LDLR
1 1.000 0.080 19 11106634 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs879254679
rs879254679
LDLR
1 1.000 0.080 19 11106669 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs879255004
rs879255004
LDLR
1 1.000 0.080 19 11116890 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs879255027
rs879255027
LDLR
1 1.000 0.080 19 11116955 missense variant A/G;T snv 0.700 1.000 1 2016 2016