Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041081
SLC25A4
0.925 4 185144891 missense variant G/A snv 4
rs115079861
RMND1
1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 3
rs1023075742
SMDT1 ; NDUFA6-DT ; NDUFA6
1.000 22 42090742 start lost C/T snv 4.0E-06 2.1E-05 2
rs144972972
RMND1
1.000 6 151430154 missense variant T/C snv 2.0E-04 2.4E-04 2
rs1569463838
NDUFA6 ; SMDT1
1.000 22 42086238 frameshift variant CT/- delins 2
rs199730889
TRMT10C
1.000 3 101565323 missense variant G/A;T snv 4.0E-06; 1.1E-04 2
rs28937887
MRPL43 ; TWNK
1.000 10 100989211 missense variant G/A;T snv 2
rs376902371
TOP3A
1.000 17 18308367 missense variant T/C snv 6.4E-05 3.5E-05 2
rs387906899
OPA1
1.000 3 193643609 missense variant A/G snv 2
rs387907087
FOXRED1
0.925 11 126276476 missense variant C/T snv 2.4E-05 1.4E-05 2
rs397515421
RMND1
1.000 6 151405787 missense variant C/T snv 2.0E-05 2.1E-05 2
rs750830935
NDUFA6 ; SMDT1
1.000 22 42087124 missense variant C/G;T snv 1.1E-04 1.4E-05 2
rs758833609
NDUFA6 ; SMDT1
1.000 22 42086305 stop gained C/A;T snv 8.0E-06; 4.4E-05 2
rs763006208
SMDT1 ; NDUFA6
1.000 22 42086261 frameshift variant A/- delins 1.1E-04 2
rs781099275
SMDT1 ; NDUFA6
1.000 22 42086215 frameshift variant G/- delins 4.0E-06 2
rs875989831
TRMT10C
1.000 3 101565595 missense variant A/G snv 2
rs886037835
TMEM126B
1.000 11 85635669 frameshift variant A/- delins 2
rs886041082
SLC25A4
1.000 4 185145863 missense variant C/G snv 2
rs1131692061
ND4 ; ND5 ; TRNL2
MT 12271 non coding transcript exon variant T/C snv 1
rs1131692062
ND4 ; TRNL2 ; ND5
MT 12283 non coding transcript exon variant G/A snv 1
rs1131692064
ATP8 ; COX2 ; COX3 ; ATP6
MT 7989 missense variant T/C snv 1
rs1365700579
YARS2
12 32750105 missense variant C/G;T snv 8.0E-06 1
rs1553877864
OPA1
3 193643430 missense variant C/T snv 1
rs1554042187
GFM2
5 74758878 missense variant T/G snv 1
rs1554887028
MRPL43 ; TWNK
10 100989213 missense variant C/A snv 1