present in Gene: COL1A2
present in Chromosome: 7
Position on Chromosome: 94404694
Alleles of this Variant: G/A
rs1114167416 in
COL1A2 gene and
Lobstein Disease
PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.