PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
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: rs1057518915
rs1057518915
20 3908191 missense variant G/A snv
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs753376100
rs753376100
20 3910664 missense variant C/T snv 1.6E-05
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
Pathological Conditions, Signs and Symptoms 0.700 0