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: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs113994097
rs113994097
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.720 1.000 3 2006 2017
dbSNP: rs113994099
rs113994099
10 0.827 0.240 15 89320883 missense variant T/C snv 0.710 1.000 2 2007 2017
dbSNP: rs143319805
rs143319805
12 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.020 1.000 2 2017 2020
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 1.000 2 2001 2004
dbSNP: rs2307441
rs2307441
6 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.020 1.000 2 2006 2015
dbSNP: rs1003624852
rs1003624852
1 8 144096675 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs111033573
rs111033573
2 1.000 0.200 10 100989285 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs111033577
rs111033577
2 1.000 0.200 10 100989352 missense variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1131691575
rs1131691575
3 0.925 0.080 15 89317469 missense variant C/T snv 8.0E-06 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs113994095
rs113994095
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 1 2017 2017
dbSNP: rs113994096
rs113994096
8 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs115079861
rs115079861
3 1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs121908572
rs121908572
4 0.882 0.280 2 218661283 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs121918046
rs121918046
4 0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918054
rs121918054
8 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1365700579
rs1365700579
1 12 32750105 missense variant C/G;T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs144972972
rs144972972
2 1.000 6 151430154 missense variant T/C snv 2.0E-04 2.4E-04 0.700 1.000 1 2016 2016
dbSNP: rs1553877864
rs1553877864
1 3 193643430 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554042187
rs1554042187
1 5 74758878 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554887028
rs1554887028
1 10 100989213 missense variant C/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554887097
rs1554887097
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554887213
rs1554887213
2 1.000 0.200 10 100989774 splice acceptor variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554887222
rs1554887222
1 10 100989791 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1555745989
rs1555745989
3 0.925 0.040 19 1244118 missense variant T/G snv 0.710 1.000 1 2018 2018