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: rs753829320
rs753829320
MFF
2 1.000 2 227355756 stop gained C/T snv 0.010 1.000 1 2018 2018
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: rs2853493
rs2853493
ND4 ; ND5
1 MT 11467 synonymous variant A/G snv 0.700 0
dbSNP: rs2853499
rs2853499
ND4 ; ND5
1 MT 12372 synonymous variant G/A 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: rs1569463838
rs1569463838
NDUFA6 ; SMDT1
2 1.000 22 42086238 frameshift variant CT/- delins 0.700 0
dbSNP: rs750830935
rs750830935
NDUFA6 ; SMDT1
2 1.000 22 42087124 missense variant C/G;T snv 1.1E-04 1.4E-05 0.700 0
dbSNP: rs758833609
rs758833609
NDUFA6 ; SMDT1
2 1.000 22 42086305 stop gained C/A;T snv 8.0E-06; 4.4E-05 0.700 0
dbSNP: rs763006208
rs763006208
NDUFA6 ; SMDT1
2 1.000 22 42086261 frameshift variant A/- delins 1.1E-04 0.700 0
dbSNP: rs781099275
rs781099275
NDUFA6 ; SMDT1
2 1.000 22 42086215 frameshift variant G/- delins 4.0E-06 0.700 0
dbSNP: rs1023075742
rs1023075742
NDUFA6 ; SMDT1 ; NDUFA6-DT
2 1.000 22 42090742 start lost C/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs143319805
rs143319805
OPA1
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: rs1553877864
rs1553877864
OPA1
1 3 193643430 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs387906899
rs387906899
OPA1
2 1.000 3 193643609 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs80356529
rs80356529
OPA1
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs398124298
rs398124298
OPA1 ; LOC102724808
3 0.925 0.160 3 193647110 missense variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs80356530
rs80356530
OPA1 ; LOC102724808
4 0.882 0.320 3 193667168 splice region variant TTAG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs772751581
rs772751581
OXA1L
1 14 22769791 missense variant G/T snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1566433812
rs1566433812
OXA1L ; LOC105370404
1 14 22768050 frameshift variant -/CAGAGCAG delins 0.700 1.000 1 2018 2018
dbSNP: rs113994097
rs113994097
POLG
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
POLG
10 0.827 0.240 15 89320883 missense variant T/C snv 0.710 1.000 2 2007 2017
dbSNP: rs2307441
rs2307441
POLG
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: rs113994096
rs113994096
POLG
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: rs121918046
rs121918046
POLG
4 0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019