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: rs5182
rs5182
AGTR1
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 < 0.001 1 1994 1994
dbSNP: rs1801177
rs1801177
LPL
14 0.742 0.240 8 19948197 missense variant G/A;C snv 1.4E-02; 2.0E-05 0.040 1.000 4 1995 2016
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.030 0.667 3 1995 2009
dbSNP: rs1264352930
rs1264352930
APOA1 ; APOA1-AS
6 0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06 0.010 1.000 1 1996 1996
dbSNP: rs1384889210
rs1384889210
APOA1 ; APOA1-AS
5 0.827 0.040 11 116836193 missense variant C/A snv 0.010 1.000 1 1996 1996
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.950 40 1997 2016
dbSNP: rs267606661
rs267606661
APOE
10 0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05 0.010 1.000 1 1997 1997
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.917 36 1998 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.100 0.938 16 1998 2018
dbSNP: rs141383962
rs141383962
CLU
3 0.882 0.040 8 27605112 missense variant C/G;T snv 7.2E-05 1.0E-04 0.010 1.000 1 1998 1998
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 1.000 11 1999 2016
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.020 1.000 2 1999 2013
dbSNP: rs142677199
rs142677199
ACE
4 0.882 0.040 17 63479897 missense variant G/A;T snv 3.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs150629733
rs150629733
AGTR1
4 0.851 0.080 3 148741190 missense variant T/C;G snv 4.0E-06; 8.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs553350297
rs553350297
AGTR1
4 0.882 0.040 3 148741588 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs761401927
rs761401927
ACE
4 0.882 0.040 17 63488704 missense variant G/A snv 9.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs762079672
rs762079672
AGT
4 0.882 0.040 1 230710211 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs764929617
rs764929617
APOE
8 0.776 0.200 19 44907799 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.030 1.000 3 2000 2013
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 2000 2001
dbSNP: rs6020
rs6020
F5
3 0.882 0.040 1 169549874 missense variant C/T snv 0.11 0.12 0.020 1.000 2 2000 2000
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2000 2000
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.060 1.000 6 2001 2009
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.040 1.000 4 2001 2015
dbSNP: rs147377392
rs147377392
THBD
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.040 1.000 4 2001 2015