ADAM9, ADAM metallopeptidase domain 9, 8754

N. diseases: 109; N. variants: 6
Disease: Cone-Rod Dystrophies ×
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: rs137853041
rs137853041 		0.925 0.080 8 39017298 stop gained C/G;T snv 4.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs786205086
rs786205086 		0.925 0.080 8 39017211 splice region variant A/G snv
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0