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: rs755933881
rs755933881
COQ8A
1 1 226982969 missense variant G/A snv 0.700 0
dbSNP: rs121908572
rs121908572
BCS1L ; ZNF142
4 0.882 0.280 2 218661283 missense variant C/T snv 0.010 1.000 1 2013 2013
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: rs753829320
rs753829320
MFF
2 1.000 2 227355756 stop gained C/T snv 0.010 1.000 1 2018 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: rs1553877864
rs1553877864
OPA1
1 3 193643430 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs199730889
rs199730889
TRMT10C
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: rs387906899
rs387906899
OPA1
2 1.000 3 193643609 missense variant A/G 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: rs80356529
rs80356529
OPA1
9 0.827 0.240 3 193643996 missense variant G/A;C 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: rs875989831
rs875989831
TRMT10C
2 1.000 3 101565595 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs886041081
rs886041081
SLC25A4
4 0.925 4 185144891 missense variant G/A snv 0.700 0
dbSNP: rs886041082
rs886041082
SLC25A4
2 1.000 4 185145863 missense variant C/G snv 0.700 0
dbSNP: rs1554042187
rs1554042187
GFM2
1 5 74758878 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs746538436
rs746538436
GFM2
1 5 74746138 frameshift variant T/- del 0.700 1.000 1 2017 2017
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: 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
dbSNP: rs144972972
rs144972972
RMND1
2 1.000 6 151430154 missense variant T/C snv 2.0E-04 2.4E-04 0.700 1.000 1 2016 2016
dbSNP: rs370863743
rs370863743
RMND1
1 6 151436526 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs397515421
rs397515421
RMND1
2 1.000 6 151405787 missense variant C/T snv 2.0E-05 2.1E-05 0.700 1.000 1 2016 2016
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: rs773470671
rs773470671
RMND1
1 6 151427481 splice donor variant C/T snv 2.4E-05 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: rs886037772
rs886037772
RMND1
1 6 151436494 stop gained G/A snv 7.0E-06 0.700 1.000 1 2016 2016