CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT ×
Source: ALL
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: rs207459997
rs207459997 		0.925 MT 15615 missense variant G/A snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 1.000 2 1996 1996
dbSNP: rs207459998
rs207459998 		1.000 MT 14846 missense variant G/A snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 1.000 1 1999 1999
dbSNP: rs207460000
rs207460000 		1.000 MT 15150 stop gained G/A snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 1.000 1 2001 2001
dbSNP: rs207460002
rs207460002 		1.000 MT 15579 missense variant A/G snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 1.000 1 2001 2001
dbSNP: rs387906421
rs387906421 		0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 0