COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Hypochondrogenesis ×
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: rs121912864
rs121912864 		1.000 0.080 12 47977373 missense variant C/T snv
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121912867
rs121912867 		0.925 0.080 12 47982142 missense variant C/T snv
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121912868
rs121912868 		1.000 0.080 12 47977607 missense variant C/T snv
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1377808450
rs1377808450 		0.925 0.080 12 47980621 missense variant T/C snv
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1992 1992