COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Stickler syndrome (disorder) ×
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: rs672601354
rs672601354 		1.000 0.160 12 47976889 frameshift variant -/AG ins
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs672601355
rs672601355 		1.000 0.160 12 47987632 inframe insertion -/ACCCAGGAG delins 8.1E-06
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121912882
rs121912882 		0.851 0.280 12 47979534 missense variant G/A snv
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018