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: rs201336180
rs201336180
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
2 0.925 0.200 MT 8684 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs5945326
rs5945326 		2 0.925 0.080 X 153634467 regulatory region variant A/G snv 0.25 0.810 1.000 5 2010 2014
dbSNP: rs4646188
rs4646188
ACE2
4 0.925 0.120 X 15583220 intron variant A/G snv 9.1E-02 0.020 1.000 2 2012 2018
dbSNP: rs11095909
rs11095909
MAGEC3
1 1.000 0.080 X 141879379 missense variant T/C snv 0.25 0.27 0.700 1.000 1 2018 2018
dbSNP: rs11390176
rs11390176
IL13RA1
1 1.000 0.080 X 118781201 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1155974
rs1155974
TNMD
2 0.925 0.120 X 100598284 intron variant C/T snv 0.34 0.010 1.000 1 2007 2007
dbSNP: rs12010175
rs12010175
CCNQ
1 1.000 0.080 X 153597180 intron variant A/G snv 0.800 1.000 1 2013 2013
dbSNP: rs144226500
rs144226500
FAAH2
1 1.000 0.080 X 57144348 intergenic variant -/T;TT delins 0.700 1.000 1 2019 2019
dbSNP: rs146662075
rs146662075 		1 1.000 0.080 X 116277556 intergenic variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1483634989
rs1483634989
BRS3
1 1.000 0.080 X 136490396 missense variant T/C snv 5.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs181301686
rs181301686
APLN
1 1.000 0.080 X 129654944 5 prime UTR variant A/G snv 3.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs1894299
rs1894299
DUSP9
1 1.000 0.080 X 153643433 intron variant G/A;C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs1914711
rs1914711 		1 1.000 0.080 X 116157221 intergenic variant C/A snv 0.35 0.710 1.000 1 2018 2018
dbSNP: rs2073162
rs2073162
TNMD
2 1.000 0.080 X 100594020 synonymous variant G/A snv 0.40 0.39 0.010 1.000 1 2007 2007
dbSNP: rs2073163
rs2073163
TNMD
2 0.925 0.120 X 100594054 intron variant T/C snv 0.41 0.39 0.010 1.000 1 2007 2007
dbSNP: rs2281068
rs2281068
APLN
3 0.925 0.080 X 129653796 intron variant T/C snv 0.31 0.010 < 0.001 1 2016 2016
dbSNP: rs2285666
rs2285666
ACE2
4 0.925 0.160 X 15592225 splice region variant C/T snv 6.2E-06; 0.28 0.23 0.010 1.000 1 2012 2012
dbSNP: rs3813929
rs3813929
HTR2C
5 0.851 0.240 X 114584047 upstream gene variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs5929706
rs5929706 		1 1.000 0.080 X 135935372 intergenic variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs5930817
rs5930817 		1 1.000 0.080 X 135916114 downstream gene variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs6633421
rs6633421
CNKSR2
1 1.000 0.080 X 21551802 intron variant A/G snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs762890235
rs762890235
ACE2
5 0.827 0.240 X 15578220 missense variant G/T snv 3.8E-05 9.5E-06 0.010 1.000 1 2013 2013
dbSNP: rs769985775
rs769985775
DMD
6 0.851 0.160 X 32448630 synonymous variant T/C snv 5.7E-06 9.5E-06 0.010 1.000 1 2017 2017
dbSNP: rs782100977
rs782100977 		1 1.000 0.080 X 48866249 intergenic variant AAAAAA/-;AAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAA delins 0.700 1.000 1 2019 2019