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: rs199476123
rs199476123
COX1 ; ND1 ; ND2
3 0.882 0.200 MT 3946 missense variant G/A snv 0.700 0
dbSNP: rs199476124
rs199476124
COX1 ; ND1 ; ND2
1 1.000 0.200 MT 3949 missense variant T/C snv 0.700 0
dbSNP: rs199476132
rs199476132
COX1 ; COX2 ; ND2 ; TRNN
3 0.925 0.200 MT 5728 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs199476141
rs199476141
COX1 ; ND1 ; ND2 ; TRNQ
1 1.000 0.200 MT 4332 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs200077222
rs200077222
TRNC ; COX1 ; COX2 ; ND2
1 1.000 0.200 MT 5814 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs267606896
rs267606896
CYTB ; ND5
3 0.882 0.200 MT 13084 missense variant A/T snv 0.700 0
dbSNP: rs786205666
rs786205666
NDUFS1
2 0.925 0.200 2 206145006 missense variant A/C snv 0.700 0
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
5 0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 0.700 1.000 1 1991 1991
dbSNP: rs118192099
rs118192099
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
3 0.882 0.200 MT 8356 non coding transcript exon variant T/C snv 0.700 1.000 1 1992 1992
dbSNP: rs199476113
rs199476113
ND4 ; ND4L ; ND5
1 1.000 0.200 MT 11084 missense variant A/G snv 0.700 1.000 1 1992 1992
dbSNP: rs199474658
rs199474658
ND1 ; ND2 ; TRNL1
2 0.925 0.200 MT 3271 non coding transcript exon variant T/C snv 0.700 1.000 2 1991 1993
dbSNP: rs199474661
rs199474661
ND1 ; ND2 ; TRNL1
2 0.925 0.200 MT 3252 non coding transcript exon variant A/G snv 0.700 1.000 1 1993 1993
dbSNP: rs199474659
rs199474659
ND1 ; ND2 ; TRNL1
3 0.882 0.200 MT 3256 non coding transcript exon variant C/T snv 0.700 1.000 2 1993 1994
dbSNP: rs199474663
rs199474663
ND1 ; ND2 ; TRNL1
2 0.925 0.200 MT 3260 non coding transcript exon variant A/G snv 0.700 1.000 2 1993 1994
dbSNP: rs199474818
rs199474818
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
3 0.882 0.320 MT 7445 stop lost A/C;G;T snv 0.700 1.000 1 1994 1994
dbSNP: rs869312463
rs869312463
ND1 ; ND2 ; TRNL1
1 1.000 0.200 MT 3291 non coding transcript exon variant T/C snv 0.700 1.000 1 1994 1994
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
4 0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins 0.700 1.000 1 1995 1995
dbSNP: rs121434453
rs121434453
CYTB ; ND6 ; TRNE
4 0.882 0.320 MT 14709 non coding transcript exon variant T/C snv 0.700 1.000 1 1995 1995
dbSNP: rs199474817
rs199474817
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
3 0.882 0.200 MT 7512 non coding transcript exon variant T/C snv 0.700 1.000 1 1995 1995
dbSNP: rs199474662
rs199474662
ND1 ; ND2 ; TRNL1
2 0.925 0.200 MT 3251 non coding transcript exon variant A/G snv 0.700 1.000 2 1993 1996
dbSNP: rs118192100
rs118192100
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
4 0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 0.700 1.000 1 1996 1996
dbSNP: rs201212638
rs201212638
ND1 ; ND2
1 1.000 0.200 MT 3398 missense variant T/C snv 0.700 1.000 1 1996 1996
dbSNP: rs199474673
rs199474673
COX1 ; ND2 ; TRNW
2 1.000 0.200 MT 5521 non coding transcript exon variant G/A snv 0.700 1.000 1 1998 1998
dbSNP: rs199474660
rs199474660
ND1 ; ND2 ; TRNL1
2 0.925 0.200 MT 3303 non coding transcript exon variant C/T snv 0.700 1.000 2 1994 1999
dbSNP: rs199474821
rs199474821
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
2 0.925 0.280 MT 7511 non coding transcript exon variant T/C snv 0.700 1.000 1 1999 1999