Disease: Juvenile polyposis syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878854673
rs878854673
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs878854672
rs878854672
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs878854664
rs878854664
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. 8397373 1993
dbSNP: rs876660442
rs876660442
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		CA 0.700 CausalMutation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638 2006
dbSNP: rs786204187
rs786204187
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs786203157
rs786203157
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.700 GeneticVariation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382 2009
dbSNP: rs786203157
rs786203157
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.700 GeneticVariation CLINVAR BMPR1A mutations in juvenile polyposis affect cellular localization. 23433720 2013
dbSNP: rs786201038
rs786201038
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		C 0.700 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955 2013
dbSNP: rs764466442
rs764466442
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs759363072
rs759363072
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587783038
rs587783038
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
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
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		TA 0.700 GeneticVariation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638 2006
dbSNP: rs587783038
rs587783038
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
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
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		TA 0.700 GeneticVariation CLINVAR Hereditary mixed polyposis syndrome due to a BMPR1A mutation. 19438883 2010
dbSNP: rs587783038
rs587783038
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
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
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
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
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
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
dbSNP: rs587782682
rs587782682
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.700 CausalMutation CLINVAR Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. 12136244 2002
dbSNP: rs587782682
rs587782682
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.700 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955 2013
dbSNP: rs587782400
rs587782400
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.700 CausalMutation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382 2009
dbSNP: rs587782400
rs587782400
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		T 0.700 CausalMutation 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
dbSNP: rs587781928
rs587781928
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs35619497
rs35619497
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.700 GeneticVariation UNIPROT
dbSNP: rs199476089
rs199476089
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.700 GeneticVariation UNIPROT Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. 11536076 2001
dbSNP: rs199476089
rs199476089
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.700 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513 2002