TFAM, transcription factor A, mitochondrial, 7019

N. diseases: 147; N. variants: 4
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: rs757075712
rs757075712
0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0008370
Disease: Cholestasis
Cholestasis
Digestive System Diseases 0.700 0