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  • Summary of GDAs
  • Evidences for GDAs
  • Summary of VDAs
  • Evidences for VDAs
  • Summary of DDAs
  • Disease Mappings

Deoxyguanosine Kinase Deficiency, C3711385

Gene: TFAM ×
Source: ALL

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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: rs757075712
rs757075712
TFAM
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0

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