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: rs17321515
rs17321515 		16 0.776 0.200 8 125474167 intron variant A/G snv 0.49 0.010 1.000 1 2011 2011
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: rs5742904
rs5742904
APOB
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.800 1.000 14 1990 2017
dbSNP: rs12713559
rs12713559
APOB
10 0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04 0.030 1.000 3 1997 2006
dbSNP: rs1226992086
rs1226992086
APOB
2 0.925 0.080 2 21041055 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2003 2003
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: rs144467873
rs144467873
APOB
9 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.700 1.000 1 2016 2016
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: rs200353509
rs200353509
APOB
4 0.882 0.120 2 21035701 missense variant G/A;C;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 1998 1998
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: rs769452
rs769452
APOE
2 0.925 0.160 19 44907853 missense variant T/C snv 2.5E-03 1.9E-03 0.700 1.000 3 2013 2016
dbSNP: rs769455
rs769455
APOE
8 0.827 0.120 19 44908783 missense variant C/T snv 1.4E-03 6.9E-03 0.700 1.000 3 2013 2016
dbSNP: rs11542041
rs11542041
APOE
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 1.000 1 2014 2014
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: rs267606664
rs267606664
APOE
5 0.851 0.120 19 44908730 missense variant G/A;C snv 1.6E-04; 6.3E-06 0.700 0
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: rs2303790
rs2303790
CETP
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.010 1.000 1 1997 1997
dbSNP: rs5063
rs5063
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs1240681880
rs1240681880
DNAH8
3 0.882 0.160 6 38722870 missense variant G/A snv 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs374691452
rs374691452
DNAH8
2 0.925 0.120 6 38723443 missense variant T/A;C snv 4.2E-06; 2.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs751141
rs751141
EPHX2
16 0.732 0.400 8 27516348 missense variant G/A snv 0.12 0.10 0.700 0
dbSNP: rs6180
rs6180
GHR
6 0.827 0.160 5 42719137 missense variant A/C snv 0.44 0.43 0.010 1.000 1 2003 2003
dbSNP: rs33972927
rs33972927
HBB
2 0.925 0.080 11 5226612 missense variant A/G snv 0.010 1.000 1 2000 2000
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