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: rs28937887
rs28937887
2 1.000 10 100989211 missense variant G/A;T 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: rs111033573
rs111033573
2 1.000 0.200 10 100989285 missense variant G/A;T 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: rs111033577
rs111033577
2 1.000 0.200 10 100989352 missense variant T/C;G 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: rs199730889
rs199730889
2 1.000 3 101565323 missense variant G/A;T snv 4.0E-06; 1.1E-04 0.700 1.000 1 2016 2016
dbSNP: rs875989831
rs875989831
2 1.000 3 101565595 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs515726199
rs515726199
2 1.000 0.200 8 102208239 frameshift variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs515726180
rs515726180
1 8 102238827 splice region variant C/T snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs368849022
rs368849022
1 12 104327633 synonymous variant T/C snv 1.2E-04 9.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs2853493
rs2853493
ND4 ; ND5
1 MT 11467 synonymous variant A/G snv 0.700 0
dbSNP: rs1131692061
rs1131692061
ND4 ; ND5 ; TRNL2
1 MT 12271 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1131692062
rs1131692062
ND4 ; ND5 ; TRNL2
1 MT 12283 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs2853499
rs2853499
ND4 ; ND5
1 MT 12372 synonymous variant G/A snv 0.700 0
dbSNP: rs867410737
rs867410737
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.010 1.000 1 2018 2018
dbSNP: rs1555745989
rs1555745989
3 0.925 0.040 19 1244118 missense variant T/G snv 0.710 1.000 1 2018 2018
dbSNP: rs387907087
rs387907087
3 0.925 11 126276476 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs1131692063
rs1131692063
CYTB ; ND5
2 1.000 0.160 MT 13051 missense variant G/A snv 0.700 0
dbSNP: rs267606897
rs267606897
CYTB ; ND5
4 0.882 0.200 MT 13513 missense variant G/A snv 0.700 0
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: rs387906421
rs387906421
CYTB ; ND6 ; TRNE
3 0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv 0.700 0
dbSNP: rs121434453
rs121434453
CYTB ; ND6 ; TRNE
4 0.882 0.320 MT 14709 non coding transcript exon variant T/C snv 0.700 0
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