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: rs11065987
rs11065987 		17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs1857231
rs1857231 		1 1.000 0.080 10 8919651 intergenic variant G/A snv 0.64 0.700 1.000 1 2013 2013
dbSNP: rs6499100
rs6499100 		1 1.000 0.080 16 52797550 intergenic variant T/C snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs12519770
rs12519770
ADGRV1
1 1.000 0.080 5 90777460 intron variant A/G snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs115875978
rs115875978
ALDH1A2
1 1.000 0.080 15 58010691 missense variant C/A;T snv 5.9E-04; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs149655951
rs149655951
ALDH1A2
1 1.000 0.080 15 57992742 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs16939660
rs16939660
ALDH1A2
2 0.925 0.120 15 58010689 synonymous variant T/C snv 8.4E-03 1.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs1569484120
rs1569484120
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6887 inframe insertion -/GGG delins 0.700 0
dbSNP: rs1569484122
rs1569484122
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6900 frameshift variant A/- delins 0.700 0
dbSNP: rs1569484124
rs1569484124
ATP6 ; ATP8 ; COX1 ; COX2
2 0.925 0.080 MT 6925 frameshift variant C/- delins 0.700 0
dbSNP: rs1569484126
rs1569484126
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6939 frameshift variant T/- delins 0.700 0
dbSNP: rs1569484164
rs1569484164
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7638 frameshift variant A/- delins 0.700 0
dbSNP: rs1569484288
rs1569484288
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9273 protein altering variant -/ATC ins 0.700 0
dbSNP: rs1569484299
rs1569484299
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9429 protein altering variant -/CCC ins 0.700 0
dbSNP: rs1569484301
rs1569484301
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9441 inframe insertion -/TTT delins 0.700 0
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs587783446
rs587783446
CHD7
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs563655306
rs563655306
CITED2
2 0.925 0.080 6 139373371 missense variant T/C snv 3.2E-03 2.0E-03 0.010 1.000 1 2012 2012
dbSNP: rs1569484042
rs1569484042
COX1 ; COX2 ; ND2
1 1.000 0.080 MT 5954 frameshift variant A/- del 0.700 0
dbSNP: rs1057515420
rs1057515420
EPHB4
1 1.000 0.080 7 100819874 missense variant G/A snv 0.700 1.000 2 2009 2016
dbSNP: rs115099192
rs115099192
GATA4
5 0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05 0.810 1.000 1 2010 2010
dbSNP: rs1185861796
rs1185861796
GATA4
2 1.000 0.080 8 11758339 missense variant C/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs17153694
rs17153694
GATA4
4 0.851 0.160 8 11730972 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs387906769
rs387906769
GATA4
7 0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 0.710 1.000 1 2010 2010