Variant: rs1563993649

present in Gene: NPR2;SPAG8 present in Chromosome: 9 Position on Chromosome: 35808507 Alleles of this Variant: A/T

rs1563993649 in NPR2;SPAG8 gene and ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

rs1563993649 in NPR2;SPAG8 gene and EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.