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: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs11549467
rs11549467
HIF1A ; HIF1A-AS3
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs1957757
rs1957757
HIF1A ; HIF1A-AS3
1 1.000 0.080 14 61730230 intron variant T/C snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs2074192
rs2074192
ACE2
9 0.827 0.160 X 15564667 intron variant C/T snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs2106809
rs2106809
ACE2
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs755492182
rs755492182
ACTN2
3 0.882 0.080 1 236735677 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
10 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.010 1.000 1 2018 2018
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2018 2018
dbSNP: rs1050606
rs1050606
ANXA5
2 1.000 0.080 4 121696891 5 prime UTR variant A/C snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs1349963459
rs1349963459
PSEN1
2 0.925 0.080 14 73170901 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs2073618
rs2073618
TNFRSF11B ; COLEC10
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.010 1.000 1 2017 2017
dbSNP: rs2296545
rs2296545
RNLS ; LIPJ
8 0.851 0.160 10 88583080 missense variant C/G;T snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2017 2017
dbSNP: rs75404003
rs75404003
TNFRSF11A
1 1.000 0.080 18 62361277 intron variant C/- delins 0.010 1.000 1 2017 2017
dbSNP: rs9594782
rs9594782
TNFSF11
1 1.000 0.080 13 42577050 intron variant T/C snv 4.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs201278114
rs201278114
MYBPC3
3 0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs2070951
rs2070951
NR3C2
9 0.776 0.320 4 148436862 splice region variant G/A;C snv 4.2E-06; 0.53 0.010 1.000 1 2016 2016
dbSNP: rs238234
rs238234
CAMTA2
1 1.000 0.080 17 4980523 missense variant C/A;G;T snv 5.6E-05; 0.75; 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs5522
rs5522
NR3C2
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2016 2016
dbSNP: rs397516005
rs397516005
MYBPC3
5 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.040 1.000 4 2015 2019
dbSNP: rs17168525
rs17168525
MTPN ; LUZP6
1 1.000 0.080 7 135928514 3 prime UTR variant G/A snv 1.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs1799998
rs1799998
CYP11B2
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.010 1.000 1 2015 2015