Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041082
SLC25A4
1.000 4 185145863 missense variant C/G snv 2
rs886041081
SLC25A4
0.925 4 185144891 missense variant G/A snv 4
rs886037835
TMEM126B
1.000 11 85635669 frameshift variant A/- delins 2
rs886037773
RMND1
6 151405719 splice donor variant C/A;G snv 4.0E-06 1
rs886037772
RMND1
6 151436494 stop gained G/A snv 7.0E-06 1
rs886037771
RMND1
6 151405734 missense variant G/A snv 1
rs875989831
TRMT10C
1.000 3 101565595 missense variant A/G snv 2
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs863224028
NOXO1 ; GFER
16 1984415 frameshift variant C/- delins 1
rs80356530
OPA1 ; LOC102724808
0.882 0.320 3 193667168 splice region variant TTAG/- delins 4
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 9
rs797046003
SPG7
1.000 0.080 16 89529575 splice donor variant -/T delins 2
rs781099275
SMDT1 ; NDUFA6
1.000 22 42086215 frameshift variant G/- delins 4.0E-06 2
rs775256289
YARS2
12 32750046 inframe insertion -/TGATCAGACATGACCTCC delins 1.6E-05 1
rs773470671
RMND1
6 151427481 splice donor variant C/T snv 2.4E-05 1
rs772751581
OXA1L
14 22769791 missense variant G/T snv 4.0E-06 1
rs771894262
RMND1
6 151433213 missense variant C/G;T snv 4.0E-06; 4.0E-06 1
rs763006208
SMDT1 ; NDUFA6
1.000 22 42086261 frameshift variant A/- delins 1.1E-04 2
rs761283105
GFM2
5 74747731 missense variant C/T snv 1.6E-05 2.8E-05 1
rs758833609
NDUFA6 ; SMDT1
1.000 22 42086305 stop gained C/A;T snv 8.0E-06; 4.4E-05 2
rs755933881
COQ8A
1 226982969 missense variant G/A snv 1
rs753829320
MFF
1.000 2 227355756 stop gained C/T snv 2
rs752169833
CHCHD2
0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 3
rs750830935
NDUFA6 ; SMDT1
1.000 22 42087124 missense variant C/G;T snv 1.1E-04 1.4E-05 2
rs746538436
GFM2
5 74746138 frameshift variant T/- del 1