COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Achondrogenesis type 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: rs121912878
rs121912878 		1.000 0.080 12 47978389 missense variant C/T snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1989 2007
dbSNP: rs121912879
rs121912879 		0.925 0.080 12 47980017 missense variant C/G snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1989 2007
dbSNP: rs121912888
rs121912888 		1.000 0.080 12 47985946 missense variant C/T snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1989 2007
dbSNP: rs1555167156
rs1555167156 		1.000 0.080 12 47985956 missense variant C/T snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 8 1989 2007
dbSNP: rs121912874
rs121912874 		0.716 0.400 12 47978329 missense variant G/A snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121912893
rs121912893 		0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121912899
rs121912899 		1.000 0.080 12 47985771 missense variant C/A snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555165335
rs1555165335 		1.000 0.080 12 47978042 inframe deletion CACGGGGCCAGGAGGACC/- delins
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555166729
rs1555166729 		1.000 0.080 12 47983699 missense variant C/T snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1565681966
rs1565681966 		1.000 0.080 12 47985726 splice donor variant A/C snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs794727261
rs794727261 		0.716 0.400 12 47999953 stop gained G/T snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs868417981
rs868417981 		1.000 0.080 12 47986343 missense variant C/A;T snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		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: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1992 1992