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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2004 2009
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2014 2014
dbSNP: rs11583680
rs11583680
PCSK9
3 0.882 0.200 1 55039995 missense variant C/G;T snv 1.6E-05; 0.11 0.010 < 0.001 1 2017 2017
dbSNP: rs11887092
rs11887092
COL3A1 ; LOC105373791
2 1.000 0.120 2 188972572 upstream gene variant A/G snv 7.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs17111503
rs17111503
PCSK9
7 0.925 0.160 1 55037775 upstream gene variant A/G snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs1800255
rs1800255
COL3A1
5 0.851 0.160 2 188999354 missense variant G/A snv 0.25 0.21 0.010 1.000 1 2014 2014
dbSNP: rs2138533
rs2138533
COL3A1 ; LOC105373791
3 1.000 0.120 2 188972486 upstream gene variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 < 0.001 1 2018 2018
dbSNP: rs2281939
rs2281939
SORBS1
9 0.790 0.320 10 95414595 missense variant T/C snv 8.2E-02 0.13 0.010 1.000 1 2008 2008
dbSNP: rs3739391
rs3739391
ANGPT2 ; MCPH1
2 1.000 0.120 8 6563013 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2010 2010
dbSNP: rs3744028
rs3744028
TRIM65
1 1.000 0.120 17 75892591 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs483462
rs483462
PCSK9
1 1.000 0.120 1 55059727 intron variant G/A snv 0.63 0.010 < 0.001 1 2017 2017
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.010 < 0.001 1 2017 2017
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2019 2019
dbSNP: rs5925
rs5925
LDLR
7 0.851 0.200 19 11120205 synonymous variant T/C snv 0.42 0.37 0.010 1.000 1 2012 2012
dbSNP: rs688
rs688
LDLR
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.010 1.000 1 2012 2012
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 2000 2000