RS72645357 COL1A1
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What This Variant Does
"Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of ...
Associated Conditions
Osteogenesis imperfecta type III
Osteogenesis imperfecta
Osteogenesis imperfecta with normal sclerae
dominant form
Osteogenesis imperfecta type I
7 conditions
COL1A1-related disorder
Osteogenesis imperfecta type III
Osteogenesis imperfecta
Osteogenesis imperfecta with normal sclerae
dominant form
Osteogenesis imperfecta type I
7 conditions
COL1A1-related disorder
Other Variants in COL1A1