Variant: rs1057523275

present in Gene: BMP2 present in Chromosome: 20 Position on Chromosome: 6778358 Alleles of this Variant: C/T

rs1057523275 in BMP2 gene and SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES PMID 29198724 2017 Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.