Source: INFERRED ×
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
2 0.882 0.200 MT 3946 missense variant G/A snv 0.700 1.000 4 2004 2011
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 1.000 1 1999 1999
dbSNP: rs199476118
rs199476118
ND1 ; ND2
3 0.925 0.160 MT 3460 missense variant G/A snv 0.700 1.000 1 2002 2002
dbSNP: rs199476144
rs199476144
ND1 ; TRNV
3 0.925 0.200 MT 1624 non coding transcript exon variant C/T snv 0.700 1.000 1 2002 2002
dbSNP: rs587776433
rs587776433
ND1 ; ND2
2 0.925 0.200 MT 3481 missense variant G/A snv 0.700 1.000 1 2008 2008
dbSNP: rs587776434
rs587776434
ND1 ; ND2
1 1.000 0.120 MT 3890 missense variant G/A snv 0.700 1.000 1 2008 2008
dbSNP: rs587776441
rs587776441
ND1 ; TRNV
1 1.000 0.120 MT 1644 non coding transcript exon variant G/T snv 0.700 1.000 1 1997 1997
dbSNP: rs267606889
rs267606889
COX1 ; ND1 ; ND2
2 0.925 0.120 MT 4681 missense variant T/C snv 0.700 0