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: rs886041082
rs886041082
SLC25A4
2 1.000 4 185145863 missense variant C/G snv 0.700 0
dbSNP: rs886041081
rs886041081
SLC25A4
4 0.925 4 185144891 missense variant G/A snv 0.700 0
dbSNP: rs886037835
rs886037835
TMEM126B
2 1.000 11 85635669 frameshift variant A/- delins 0.700 1.000 1 2016 2016
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: rs886037772
rs886037772
RMND1
1 6 151436494 stop gained G/A snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886037771
rs886037771
RMND1
1 6 151405734 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs875989831
rs875989831
TRMT10C
2 1.000 3 101565595 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.010 1.000 1 2018 2018
dbSNP: rs863224028
rs863224028
GFER ; NOXO1
1 16 1984415 frameshift variant C/- delins 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: rs80356529
rs80356529
OPA1
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs797046003
rs797046003
SPG7
2 1.000 0.080 16 89529575 splice donor variant -/T delins 0.700 1.000 1 2017 2017
dbSNP: rs781099275
rs781099275
NDUFA6 ; SMDT1
2 1.000 22 42086215 frameshift variant G/- delins 4.0E-06 0.700 0
dbSNP: rs775256289
rs775256289
YARS2
1 12 32750046 inframe insertion -/TGATCAGACATGACCTCC delins 1.6E-05 0.700 1.000 1 2017 2017
dbSNP: rs773470671
rs773470671
RMND1
1 6 151427481 splice donor variant C/T snv 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs772751581
rs772751581
OXA1L
1 14 22769791 missense variant G/T snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs771894262
rs771894262
RMND1
1 6 151433213 missense variant C/G;T snv 4.0E-06; 4.0E-06 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: rs761283105
rs761283105
GFM2
1 5 74747731 missense variant C/T snv 1.6E-05 2.8E-05 0.700 1.000 1 2017 2017
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: rs755933881
rs755933881
COQ8A
1 1 226982969 missense variant G/A snv 0.700 0
dbSNP: rs753829320
rs753829320
MFF
2 1.000 2 227355756 stop gained C/T snv 0.010 1.000 1 2018 2018
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: 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: rs746538436
rs746538436
GFM2
1 5 74746138 frameshift variant T/- del 0.700 1.000 1 2017 2017