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: rs387907237
rs387907237
1.000 6 166365990 missense variant G/A snv
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
0.800 1.000 1 2012 2012
dbSNP: rs387907238
rs387907238
1.000 6 166366043 missense variant A/C;T snv 4.0E-06
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
0.800 1.000 1 2012 2012
dbSNP: rs1554264977
rs1554264977
1.000 6 166366065 missense variant T/C snv
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
0.700 0