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: 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: rs11613352
rs11613352
R3HDM2
9 0.827 0.160 12 57398797 intron variant C/T snv 0.19 0.010 1.000 1 2015 2015
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: rs12720762
rs12720762
APOB
2 0.925 0.080 2 21043787 intron variant C/G snv 4.8E-03 0.010 1.000 1 2013 2013
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: rs17321515
rs17321515 		16 0.776 0.200 8 125474167 intron variant A/G snv 0.49 0.010 1.000 1 2011 2011
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: rs12710260
rs12710260
LDLR
1 1.000 0.080 19 11110781 intron variant G/A;C snv 1.2E-05; 0.40 0.700 0
dbSNP: rs540073140
rs540073140
LDLR
1 1.000 0.080 19 11110780 intron variant C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs587776886
rs587776886
LDLR
2 0.925 0.080 19 11120608 intron variant C/G;T snv 0.700 0
dbSNP: rs765696008
rs765696008
LDLR ; MIR6886
4 0.925 0.080 19 11113268 intron variant G/A;C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs879254734
rs879254734
LDLR
2 0.925 0.080 19 11110640 intron variant G/A snv 0.700 0
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: 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: rs368657165
rs368657165
LDLR
7 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.820 1.000 33 1989 2017
dbSNP: rs11547917
rs11547917
LDLR
7 0.807 0.200 19 11107491 stop gained C/A;G;T snv 0.800 1.000 31 1989 2017
dbSNP: rs121908029
rs121908029
LDLR
13 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.800 1.000 31 1989 2017
dbSNP: rs144172724
rs144172724
LDLR
6 0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05 0.800 1.000 31 1989 2017
dbSNP: rs146651743
rs146651743
LDLR
5 0.851 0.160 19 11107402 stop gained C/A;G;T snv 2.5E-04 0.800 1.000 31 1989 2017
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 31 1989 2017
dbSNP: rs748944640
rs748944640
LDLR
4 0.925 0.080 19 11105324 stop gained G/A;T snv 8.0E-06 0.800 1.000 31 1989 2017
dbSNP: rs767618089
rs767618089
LDLR
4 0.925 0.080 19 11107472 stop gained A/G;T snv 1.2E-05 0.700 1.000 31 1989 2017
dbSNP: rs769318035
rs769318035
LDLR
4 0.925 0.080 19 11105425 stop gained C/A;G;T snv 8.0E-06; 4.0E-06 0.800 1.000 31 1989 2017
dbSNP: rs148698650
rs148698650
LDLR
4 0.925 0.080 19 11107403 stop gained G/A;T snv 5.4E-04 0.710 1.000 12 2004 2017
dbSNP: rs869320652
rs869320652
LDLR
4 0.925 0.080 19 11120522 stop gained G/A;C;T snv 8.0E-06 0.800 1.000 12 2004 2017