PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Disease: Cone-Rod Dystrophy 2 ×
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: rs796051882
rs796051882 		1.000 0.080 4 15988237 intron variant T/C snv 7.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2016 2016