Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382 2009
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: 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: rs1060503408
rs1060503408
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 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: rs1060503408
rs1060503408
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513 2002
dbSNP: rs1060503409
rs1060503409
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1064792985
rs1064792985
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1064794031
rs1064794031
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR
dbSNP: rs10788528
rs10788528
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE For three SNPs (rs7095025, rs11202222, and rs10788528), the association with obesity was confirmed in the independent cohort of Sorbs (adjusted P < 0.005). 19502417 2009
dbSNP: rs11202222
rs11202222
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE For three SNPs (rs7095025, rs11202222, and rs10788528), the association with obesity was confirmed in the independent cohort of Sorbs (adjusted P < 0.005). 19502417 2009
dbSNP: rs112669180
rs112669180
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1131691167
rs1131691167
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131691168
rs1131691168
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		0.700 GeneticVariation UNIPROT
dbSNP: rs1131691168
rs1131691168
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1131691171
rs1131691171
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1131691172
rs1131691172
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131691173
rs1131691173
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131691174
rs1131691174
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1131691174
rs1131691174
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1131691175
rs1131691175
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131691176
rs1131691176
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131691178
rs1131691178
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131691179
rs1131691179
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs1131691179
rs1131691179
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		GA 0.700 CausalMutation CLINVAR