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: rs2285666
rs2285666
ACE2
4 0.925 0.160 X 15592225 splice region variant C/T snv 6.2E-06; 0.28 0.23 0.020 1.000 2 2012 2018
dbSNP: rs4646188
rs4646188
ACE2
4 0.925 0.120 X 15583220 intron variant A/G snv 9.1E-02 0.020 0.500 2 2018 2018
dbSNP: rs879922
rs879922
ACE2
4 0.882 0.160 X 15572684 intron variant C/G snv 0.020 1.000 2 2018 2018
dbSNP: rs1978124
rs1978124
ACE2
2 X 15599940 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2074192
rs2074192
ACE2
9 0.827 0.160 X 15564667 intron variant C/T snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs2106809
rs2106809
ACE2
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs233575
rs233575
ACE2
1 X 15564843 intron variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs4240157
rs4240157
ACE2
4 0.925 0.080 X 15568841 intron variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs4646142
rs4646142
ACE2
1 X 15584941 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs4646155
rs4646155
ACE2
3 0.925 0.080 X 15579386 intron variant C/T snv 3.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs4646156
rs4646156
ACE2
2 X 15578920 intron variant A/T snv 0.010 1.000 1 2018 2018
dbSNP: rs4830542
rs4830542
ACE2
3 0.925 0.080 X 15558483 downstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.030 0.667 3 2004 2014
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2002 2016
dbSNP: rs4253778
rs4253778
PPARA
3 1.000 0.040 22 46234737 intron variant G/C;T snv 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 0.020 1.000 2 2014 2015
dbSNP: rs1057519655
rs1057519655
LDLR
2 1.000 0.080 19 11105516 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs11542035
rs11542035
APOE
1 19 44908706 missense variant G/A snv 1.9E-05 2.8E-05 0.010 1.000 1 1995 1995
dbSNP: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2011 2011
dbSNP: rs2278426
rs2278426
ANGPTL8 ; DOCK6
11 1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11 0.010 1.000 1 2019 2019
dbSNP: rs387906567
rs387906567
APOE
4 0.882 0.200 19 44908774 missense variant C/G;T snv 6.3E-06 0.010 1.000 1 2011 2011
dbSNP: rs544453230
rs544453230
LDLR
6 0.882 0.080 19 11110714 missense variant G/A;C snv 2.8E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs56225452
rs56225452
SLC27A5 ; ZBTB45 ; LOC105372486
5 0.851 0.080 19 58513279 upstream gene variant C/T snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs573658040
rs573658040
APOE
9 0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06 0.010 1.000 1 2014 2014
dbSNP: rs58542926
rs58542926
TM6SF2
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.010 1.000 1 2015 2015