present in Gene: COL1A1
present in Chromosome: 17
Position on Chromosome: 50195262
Alleles of this Variant: G/-
rs1114167374 in
COL1A1 gene and
Lobstein Disease
PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.