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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs1048101
rs1048101
5 0.882 0.120 8 26770511 missense variant A/G snv 0.52 0.56 0.010 1.000 1 2018 2018
dbSNP: rs16148
rs16148
1 7 24282719 upstream gene variant T/C snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs16476
rs16476
1 7 24290600 intron variant T/G snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs16979956
rs16979956
BMX ; ACE2
2 X 15525068 intron variant C/T snv 4.0E-04 0.010 1.000 1 2014 2014
dbSNP: rs1783901
rs1783901
1 11 123642798 intron variant C/T snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs1939012
rs1939012
2 1.000 0.040 11 102724404 intron variant T/C snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs2053044
rs2053044
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs2304297
rs2304297
2 8 42753056 3 prime UTR variant G/C snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs28365031
rs28365031
1 2 96115249 frameshift variant -/TCCTCTTC delins 5.8E-06 0.010 1.000 1 2018 2018
dbSNP: rs35697037
rs35697037
BMX ; ACE2
2 X 15523993 intron variant G/A snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs3743077
rs3743077
3 1.000 0.040 15 78602554 intron variant C/T snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs3802241
rs3802241
1 8 26765867 3 prime UTR variant G/A snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs5574
rs5574
5 0.882 0.200 7 24289514 synonymous variant C/T snv 0.43 0.43 0.010 1.000 1 2018 2018
dbSNP: rs7136446
rs7136446
8 0.882 0.160 12 102444737 intron variant C/T snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs7178176
rs7178176
2 15 32151612 intron variant C/T snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs755204
rs755204
2 20 63362813 intron variant G/A snv 8.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs77485247
rs77485247
3 0.925 0.080 18 24460578 upstream gene variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs7812298
rs7812298
2 8 42753436 intron variant C/T snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs7828365
rs7828365
2 8 42774171 intron variant C/T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs972936
rs972936
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.020 1.000 2 2013 2018
dbSNP: rs151344517
rs151344517
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs796053124
rs796053124
4 0.882 0.080 2 165354232 missense variant G/T snv 0.700 1.000 1 2010 2010