Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783038
rs587783038
BMPR1A
TA 0.700 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs587783038
rs587783038
BMPR1A
TA 0.700 GeneticVariation CLINVAR Hereditary mixed polyposis syndrome due to a BMPR1A mutation. 19438883

2010
dbSNP: rs587783038
rs587783038
BMPR1A
TA 0.700 GeneticVariation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382

2009
dbSNP: rs587783038
rs587783038
BMPR1A
TA 0.700 GeneticVariation CLINVAR Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. 16525031

2006
dbSNP: rs587783038
rs587783038
BMPR1A
TA 0.700 GeneticVariation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
dbSNP: rs587783038
rs587783038
BMPR1A
TA 0.700 GeneticVariation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019

2004
dbSNP: rs587783038
rs587783038
BMPR1A
TA 0.700 GeneticVariation CLINVAR Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. 11536076

2001