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: rs137852912
rs137852912
PCSK9
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.100 1.000 11 2004 2020
dbSNP: rs28942111
rs28942111
PCSK9
7 0.807 0.120 1 55044016 missense variant T/A snv 0.030 1.000 3 2007 2009
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 0.500 2 2015 2018
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs141502002
rs141502002
PCSK9
3 0.882 0.080 1 55058549 missense variant C/T snv 6.0E-04 2.8E-03 0.010 1.000 1 2005 2005
dbSNP: rs16827671
rs16827671
CTSS
1 1.000 0.040 1 150766283 upstream gene variant T/C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs1746661
rs1746661
FNDC5
3 0.925 0.080 1 32869438 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2006 2006
dbSNP: rs2235543
rs2235543
HSD11B1 ; HSD11B1-AS1
4 0.925 0.080 1 209687323 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs35605815
rs35605815
PCSK9
2 0.925 0.040 1 55052407 frameshift variant -/T ins 0.010 1.000 1 2007 2007
dbSNP: rs370507566
rs370507566
PCSK9
3 0.882 0.040 1 55057404 missense variant G/A;T snv 4.0E-05; 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs374603772
rs374603772
PCSK9
9 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs4393158
rs4393158
HSD11B1-AS1
2 1.000 0.040 1 209678552 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.010 1.000 1 2015 2015
dbSNP: rs562556
rs562556
PCSK9
8 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 < 0.001 1 2015 2015
dbSNP: rs564427867
rs564427867
PCSK9
6 0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2008 2008
dbSNP: rs752849346
rs752849346
LDLRAP1
3 0.882 0.080 1 25554000 missense variant C/T snv 3.2E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs794728683
rs794728683
PCSK9
3 0.882 0.080 1 55052398 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs970575319
rs970575319
PCSK9
3 0.882 0.040 1 55052408 missense variant A/T snv 0.010 1.000 1 2007 2007
dbSNP: rs5742904
rs5742904
APOB
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.100 0.917 12 1991 2018
dbSNP: rs12713559
rs12713559
APOB
10 0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04 0.040 1.000 4 1997 2000
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2004 2008
dbSNP: rs144467873
rs144467873
APOB
9 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.020 1.000 2 1997 1999