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: 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: rs121912880
rs121912880
0.882 0.080 12 47986353 missense variant C/A;T 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: rs121912881
rs121912881
1.000 0.080 12 47986388 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: rs121912895
rs121912895
1.000 0.080 12 47978320 missense variant T/C 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: rs121912871
rs121912871
1.000 0.080 12 47989769 missense variant C/T snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121912874
rs121912874
0.716 0.400 12 47978329 missense variant G/A snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
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: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
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: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0