POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Skeletal muscle atrophy ×
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: rs267606959
rs267606959 		0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 1.000 2 2010 2011