Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs755933881
COQ8A
1 226982969 missense variant G/A snv 1
rs28937590
BCS1L ; ZNF142
0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 4
rs121908572
ZNF142 ; BCS1L
0.882 0.280 2 218661283 missense variant C/T snv 3
rs753829320
MFF
1.000 2 227355756 stop gained C/T snv 1
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 5
rs80356530
OPA1 ; LOC102724808
0.882 0.320 3 193667168 splice region variant TTAG/- delins 4
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 3
rs398124298
LOC102724808 ; OPA1
0.925 0.160 3 193647110 missense variant C/A;G snv 3
rs199730889
TRMT10C
1.000 3 101565323 missense variant G/A;T snv 4.0E-06; 1.1E-04 2
rs387906899
OPA1
1.000 3 193643609 missense variant A/G snv 2
rs875989831
TRMT10C
1.000 3 101565595 missense variant A/G snv 2
rs1553877864
OPA1
3 193643430 missense variant C/T snv 1
rs886041081
SLC25A4
0.925 4 185144891 missense variant G/A snv 4
rs886041082
SLC25A4
1.000 4 185145863 missense variant C/G snv 2
rs1554042187
GFM2
5 74758878 missense variant T/G snv 1
rs746538436
GFM2
5 74746138 frameshift variant T/- del 1
rs761283105
GFM2
5 74747731 missense variant C/T snv 1.6E-05 2.8E-05 1
rs115079861
RMND1
1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 3
rs144972972
RMND1
1.000 6 151430154 missense variant T/C snv 2.0E-04 2.4E-04 2
rs397515421
RMND1
1.000 6 151405787 missense variant C/T snv 2.0E-05 2.1E-05 2
rs370863743
RMND1
6 151436526 missense variant G/A;T snv 2.4E-05 1
rs771894262
RMND1
6 151433213 missense variant C/G;T snv 4.0E-06; 4.0E-06 1
rs773470671
RMND1
6 151427481 splice donor variant C/T snv 2.4E-05 1
rs886037771
RMND1
6 151405734 missense variant G/A snv 1
rs886037772
RMND1
6 151436494 stop gained G/A snv 7.0E-06 1