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: rs201431517
rs201431517
MTFMT
17 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
dbSNP: rs121434476
rs121434476
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
1 MT 10010 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs207459997
rs207459997
CYTB ; ND6
3 0.925 MT 15615 missense variant G/A snv 0.700 0
dbSNP: rs207459998
rs207459998
CYTB ; ND6
2 1.000 MT 14846 missense variant G/A snv 0.700 0
dbSNP: rs207460000
rs207460000
CYTB ; ND6
2 1.000 MT 15150 stop gained G/A snv 0.700 0
dbSNP: rs207460001
rs207460001
CYTB ; ND6
2 MT 15197 missense variant T/C snv 0.700 0
dbSNP: rs760187215
rs760187215
MYH7
6 1.000 0.040 14 23431859 missense variant C/T snv 8.0E-06 0.700 0