COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
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: rs121912880
rs121912880 		0.882 0.080 12 47986353 missense variant C/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1990 2016
dbSNP: rs1555164672
rs1555164672 		1.000 12 47975324 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1990 2016
dbSNP: rs1555165501
rs1555165501 		1.000 12 47978703 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1990 2016
dbSNP: rs1555165501
rs1555165501 		1.000 12 47978703 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1990 2016
dbSNP: rs1555167847
rs1555167847 		1.000 12 47989768 missense variant C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1990 2016
dbSNP: rs121912867
rs121912867 		0.925 0.080 12 47982142 missense variant C/T snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 8 1989 2001
dbSNP: rs121912870
rs121912870 		1.000 0.080 12 47975971 missense variant C/T snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1989 2001
dbSNP: rs121912874
rs121912874 		0.716 0.400 12 47978329 missense variant G/A snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1989 2001
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: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 8 1989 2001
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: rs121912883
rs121912883 		1.000 0.080 12 47976043 missense variant C/G snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1989 2001
dbSNP: rs121912886
rs121912886 		0.925 0.080 12 47974090 missense variant G/A;T snv 8.0E-05
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 8 1989 2001
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: rs121912876
rs121912876 		0.925 0.280 12 47994041 missense variant G/A snv
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.840 1.000 6 1993 2016
dbSNP: rs121912865
rs121912865 		1.000 0.080 12 47982886 missense variant G/A snv 7.0E-06
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 4 1990 1995
dbSNP: rs121912882
rs121912882 		0.851 0.280 12 47979534 missense variant G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 4 1994 2018
dbSNP: rs121912872
rs121912872 		1.000 0.080 12 47994440 missense variant C/T snv
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 3 1993 2008
dbSNP: rs121912884
rs121912884 		1.000 0.240 12 47985575 missense variant G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 1994 2010
dbSNP: rs121912889
rs121912889 		0.851 0.160 12 47974234 missense variant T/C snv
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2000 2005
dbSNP: rs121912898
rs121912898 		1.000 0.080 12 48000041 missense variant C/T snv
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 3 1993 2008
dbSNP: rs121912875
rs121912875 		1.000 0.080 12 47979519 missense variant C/A snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 1995 2005
dbSNP: rs121912877
rs121912877 		1.000 0.240 12 47993825 missense variant C/T snv
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Endocrine System Diseases; Stomatognathic Diseases 0.800 1.000 2 1994 1996
dbSNP: rs121912880
rs121912880 		0.882 0.080 12 47986353 missense variant C/A;T snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2008 2008