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: rs1566433812
rs1566433812
OXA1L ; LOC105370404
1 14 22768050 frameshift variant -/CAGAGCAG delins 0.700 1.000 1 2018 2018
dbSNP: rs797046003
rs797046003
SPG7
2 1.000 0.080 16 89529575 splice donor variant -/T delins 0.700 1.000 1 2017 2017
dbSNP: rs775256289
rs775256289
YARS2
1 12 32750046 inframe insertion -/TGATCAGACATGACCTCC delins 1.6E-05 0.700 1.000 1 2017 2017
dbSNP: rs515726199
rs515726199
RRM2B
2 1.000 0.200 8 102208239 frameshift variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs886037835
rs886037835
TMEM126B
2 1.000 11 85635669 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs763006208
rs763006208
NDUFA6 ; SMDT1
2 1.000 22 42086261 frameshift variant A/- delins 1.1E-04 0.700 0
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: 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: 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: rs28937590
rs28937590
BCS1L ; ZNF142
8 0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs387906899
rs387906899
OPA1
2 1.000 3 193643609 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs875989831
rs875989831
TRMT10C
2 1.000 3 101565595 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
5 0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs2853493
rs2853493
ND4 ; ND5
1 MT 11467 synonymous variant A/G snv 0.700 0
dbSNP: rs369227537
rs369227537
SPG7
2 1.000 0.080 16 89550502 stop gained A/T snv 1.4E-04 9.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs863224028
rs863224028
GFER ; NOXO1
1 16 1984415 frameshift variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1554887028
rs1554887028
TWNK ; MRPL43
1 10 100989213 missense variant C/A 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: rs886037773
rs886037773
RMND1
1 6 151405719 splice donor variant C/A;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs752169833
rs752169833
CHCHD2
3 0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.010 1.000 1 2019 2019
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: 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: rs886041082
rs886041082
SLC25A4
2 1.000 4 185145863 missense variant C/G snv 0.700 0
dbSNP: rs1003624852
rs1003624852
CYC1
1 8 144096675 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs115079861
rs115079861
RMND1
3 1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 0.700 1.000 1 2016 2016