PROM1, prominin 1, 8842

N. diseases: 306; N. variants: 20
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
0.756 0.143 4 16013299 missense variant G/A snp
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 5 1999 2014