PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
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: rs137853006
rs137853006
0.776 0.080 4 16013299 missense variant G/A snv
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2008 2008