Variant: rs1060503408

present in Gene: BMPR1A present in Chromosome: 10 Position on Chromosome: 86919236 Alleles of this Variant: C/-

rs1060503408 in BMPR1A gene and Juvenile polyposis syndrome PMID 11536076 2001 Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

PMID 12417513 2002 Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.