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: 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: rs1365700579
rs1365700579
1 12 32750105 missense variant C/G;T snv 8.0E-06 0.700 1.000 1 2017 2017
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: rs1554887222
rs1554887222
1 10 100989791 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1566433812
rs1566433812
1 14 22768050 frameshift variant -/CAGAGCAG delins 0.700 1.000 1 2018 2018
dbSNP: rs200944917
rs200944917
1 17 18305208 stop gained G/A;T snv 1.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs207460001
rs207460001
CYTB ; ND6
2 MT 15197 missense variant T/C snv 0.010 1.000 1 2015 2015
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: rs370475970
rs370475970
1 16 1985996 missense variant C/T snv 3.2E-05 7.7E-05 0.700 1.000 1 2017 2017
dbSNP: rs370863743
rs370863743
1 6 151436526 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2016 2016
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: rs542343726
rs542343726
1 13 32332532 missense variant T/C snv 8.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs746538436
rs746538436
1 5 74746138 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs761283105
rs761283105
1 5 74747731 missense variant C/T snv 1.6E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs771894262
rs771894262
1 6 151433213 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs772751581
rs772751581
1 14 22769791 missense variant G/T snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs773470671
rs773470671
1 6 151427481 splice donor variant C/T snv 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs775256289
rs775256289
1 12 32750046 inframe insertion -/TGATCAGACATGACCTCC delins 1.6E-05 0.700 1.000 1 2017 2017
dbSNP: rs863224028
rs863224028
1 16 1984415 frameshift variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs886037771
rs886037771
1 6 151405734 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs886037772
rs886037772
1 6 151436494 stop gained G/A snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886037773
rs886037773
1 6 151405719 splice donor variant C/A;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1131692061
rs1131692061
ND4 ; ND5 ; TRNL2
1 MT 12271 non coding transcript exon variant T/C snv 0.700 0