COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: Lobstein Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167417
rs1114167417
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0023931
Disease:
Lobstein Disease 		C 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2015