Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908537
rs121908537
1.000 13 47988901 missense variant C/T snv
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
0.800 1.000 4 2005 2013
dbSNP: rs121908538
rs121908538
1.000 13 47954510 missense variant G/A snv 3.2E-05 1.4E-05
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
0.800 1.000 4 2005 2013
dbSNP: rs397515462
rs397515462
1.000 13 47968646 missense variant C/T snv
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
0.800 1.000 4 2005 2013
dbSNP: rs113994161
rs113994161
1.000 13 47988540 splice donor variant C/T snv 1.2E-05
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
0.700 0
dbSNP: rs1555256440
rs1555256440
1.000 13 47954545 missense variant T/A snv
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
0.700 0