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: rs199476087
rs199476087
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs199476088
rs199476088
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs199476087
rs199476087
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs199476087
rs199476087
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
dbSNP: rs199476088
rs199476088
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs199476088
rs199476088
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
dbSNP: rs199476087
rs199476087
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs199476088
rs199476088
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs199476086
rs199476086
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. 12630959 2003
dbSNP: rs199476087
rs199476087
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. 12630959 2003
dbSNP: rs199476088
rs199476088
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. 12630959 2003
dbSNP: rs199476086
rs199476086
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513 2002
dbSNP: rs199476086
rs199476086
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. 12136244 2002
dbSNP: rs199476087
rs199476087
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513 2002
dbSNP: rs199476087
rs199476087
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. 12136244 2002
dbSNP: rs199476088
rs199476088
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513 2002
dbSNP: rs199476088
rs199476088
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 GeneticVariation UNIPROT Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. 12136244 2002
dbSNP: rs199476086
rs199476086
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 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: rs199476087
rs199476087
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 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: rs199476088
rs199476088
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.800 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: rs199476086
rs199476086
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs199476087
rs199476087
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs199476088
rs199476088
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1554886816
rs1554886816
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955 2013
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