COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT ×
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: rs121912893
rs121912893 		0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121912894
rs121912894 		0.925 0.080 12 47993475 missense variant C/T snv
CUI: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0