PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
Disease: Hereditary retinal dystrophy ×
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: rs137852959
rs137852959 		0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0