COASY, Coenzyme A synthase, 80347

N. diseases: 125; N. variants: 12
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: rs1440530084
rs1440530084
0.882 0.040 17 42563227 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia
Musculoskeletal Diseases 0.020 1.000 2 2017 2017