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: rs730880284
rs730880284
SELP
1 1 169612928 splice donor variant C/G;T snv 2.8E-05 0.700 0
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2005 2017
dbSNP: rs72653706
rs72653706
ABCC6
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.020 0.500 2 2002 2005
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs11171806
rs11171806
IL23A
7 0.807 0.360 12 56339747 synonymous variant G/A snv 4.9E-02 4.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs11573191
rs11573191
PLA2G5
2 1.000 0.040 1 20069922 intron variant G/A snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
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 2001 2001
dbSNP: rs121918394
rs121918394
APOE
5 0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06 0.010 1.000 1 2017 2017
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2007 2007
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs137854498
rs137854498
ABCA1
3 1.000 0.120 9 104798504 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs150016118
rs150016118
UCP3
6 0.882 0.120 11 74006339 missense variant A/G snv 1.7E-05 6.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs1800849
rs1800849
UCP3
5 0.851 0.160 11 74009120 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs1866389
rs1866389
THBS4
9 0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 0.010 1.000 1 2002 2002
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2026458
rs2026458
PHACTR1
6 0.882 0.080 6 12825642 intron variant C/T snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
21 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 0.010 1.000 1 2014 2014
dbSNP: rs2066808
rs2066808
STAT2
8 0.807 0.280 12 56344189 intron variant A/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2228262
rs2228262
THBS1 ; FSIP1
10 0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02 0.010 1.000 1 2002 2002
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2015 2015