rs67543427, COL1A2

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236 2009
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236 2009
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 17078022 2007
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
0.700 CausalMutation CLINVAR Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 17078022 2007
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
0.700 CausalMutation CLINVAR The human type I collagen mutation database. 9016532 1997
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR The human type I collagen mutation database. 9016532 1997
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993
Osteogenesis imperfecta, recessive perinatal lethal
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
0.700 CausalMutation CLINVAR
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 CausalMutation CLINVAR
Ehlers-Danlos syndrome cardiac valvular type
CUI: C4303789
Disease: Ehlers-Danlos syndrome cardiac valvular type
0.700 CausalMutation CLINVAR
EDS VIIB
CUI: C1851801
Disease: EDS VIIB
0.700 CausalMutation CLINVAR
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
0.700 CausalMutation CLINVAR
Osteoporosis, Postmenopausal
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
0.700 CausalMutation CLINVAR