Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783038
rs587783038
BMPR1A
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		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
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		TA 0.700 GeneticVariation CLINVAR Hereditary mixed polyposis syndrome due to a BMPR1A mutation. 19438883

2010
dbSNP: rs587783038
rs587783038
BMPR1A
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		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
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		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
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		TA 0.700 GeneticVariation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
dbSNP: rs587783038
rs587783038
BMPR1A
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		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
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		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