Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554891331
rs1554891331
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		GAA 0.700 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238 2017
dbSNP: rs1057517610
rs1057517610
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR BMPR1A mutations in juvenile polyposis affect cellular localization. 23433720 2013
dbSNP: rs1554888310
rs1554888310
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR BMPR1A mutations in juvenile polyposis affect cellular localization. 23433720 2013
dbSNP: rs199476086
rs199476086
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR BMPR1A mutations in juvenile polyposis affect cellular localization. 23433720 2013
dbSNP: rs199476087
rs199476087
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation 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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: rs786201038
rs786201038
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: rs786201040
rs786201040
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: rs199476087
rs199476087
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties. 22799562 2012
dbSNP: rs1057517610
rs1057517610
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382 2009
dbSNP: rs1554888310
rs1554888310
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382 2009
dbSNP: rs730881431
rs730881431
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382 2009
dbSNP: rs1131691182
rs1131691182
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis. 18262054 2008
dbSNP: rs876658515
rs876658515
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. 18178612 2008
dbSNP: rs587782494
rs587782494
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119 2007
dbSNP: rs587782682
rs587782682
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119 2007
dbSNP: rs764466442
rs764466442
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119 2007
dbSNP: rs876660442
rs876660442
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CA 0.700 CausalMutation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638 2006
dbSNP: rs1057517610
rs1057517610
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Challenging colonic polyposis pedigrees: differential diagnosis, surveillance, and management concerns. 14734220 2004
dbSNP: rs1057517610
rs1057517610
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 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: rs1554888310
rs1554888310
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Molecular recognition of BMP-2 and BMP receptor IA. 15064755 2004
dbSNP: rs1554891044
rs1554891044
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019 2004
dbSNP: rs199476086
rs199476086
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 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: rs199476087
rs199476087
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 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: rs730881431
rs730881431
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019 2004