COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Lobstein Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72648352
rs72648352
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		T 0.700 GeneticVariation CLINVAR Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. 9443882 1998
dbSNP: rs72648352
rs72648352
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		T 0.700 GeneticVariation CLINVAR Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. 9295084 1997
dbSNP: rs72648352
rs72648352
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		T 0.700 GeneticVariation CLINVAR Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 7942841 1994