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: rs207459997
rs207459997
CYTB ; ND6
3 0.925 MT 15615 missense variant G/A snv 0.700 1.000 2 1996 1996
dbSNP: rs207459998
rs207459998
CYTB ; ND6
2 1.000 MT 14846 missense variant G/A snv 0.700 1.000 1 1999 1999
dbSNP: rs207460000
rs207460000
CYTB ; ND6
2 1.000 MT 15150 stop gained G/A snv 0.700 1.000 1 2001 2001
dbSNP: rs207460002
rs207460002
CYTB ; ND6
1 1.000 MT 15579 missense variant A/G snv 0.700 1.000 1 2001 2001
dbSNP: rs267606615
rs267606615
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.080 MT 9379 stop gained G/A snv 0.700 1.000 1 2002 2002
dbSNP: rs387906421
rs387906421
CYTB ; ND6 ; TRNE
3 0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv 0.700 0