Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509396
rs397509396
Entrez Id: 11041;25855;102724064
Gene Symbol: B4GAT1;BRMS1;LOC102724064
B4GAT1;BRMS1;LOC102724064
CUI: C3809042
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 		0.700 GeneticVariation UNIPROT A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. 23877401 2013
dbSNP: rs397509396
rs397509396
Entrez Id: 11041;25855;102724064
Gene Symbol: B4GAT1;BRMS1;LOC102724064
B4GAT1;BRMS1;LOC102724064
CUI: C3809042
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 		0.700 GeneticVariation UNIPROT Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. 23359570 2013
dbSNP: rs397509397
rs397509397
Entrez Id: 11041;25855;102724064
Gene Symbol: B4GAT1;BRMS1;LOC102724064
B4GAT1;BRMS1;LOC102724064
CUI: C3809042
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 		0.700 GeneticVariation UNIPROT A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. 23877401 2013
dbSNP: rs397509397
rs397509397
Entrez Id: 11041;25855;102724064
Gene Symbol: B4GAT1;BRMS1;LOC102724064
B4GAT1;BRMS1;LOC102724064
CUI: C3809042
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 		0.700 GeneticVariation UNIPROT Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. 23359570 2013
dbSNP: rs730882237
rs730882237
Entrez Id: 11041;25855;102724064
Gene Symbol: B4GAT1;BRMS1;LOC102724064
B4GAT1;BRMS1;LOC102724064
CUI: C0265221
Disease:
Walker-Warburg congenital muscular dystrophy 		CAA 0.700 GeneticVariation CLINVAR
dbSNP: rs730882237
rs730882237
Entrez Id: 11041;25855;102724064
Gene Symbol: B4GAT1;BRMS1;LOC102724064
B4GAT1;BRMS1;LOC102724064
CUI: C3809042
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 		CAA 0.700 CausalMutation CLINVAR
dbSNP: rs1052566
rs1052566
Entrez Id: 9610;25855
Gene Symbol: RIN1;BRMS1
RIN1;BRMS1
CUI: C3642346
Disease:
Luminal B Breast Carcinoma 		0.010 GeneticVariation BEFREE BRMS1 rs1052566 heterozygous individuals were more likely to have node-positive tumors (OR = 1.58, 95 % CI 1.13-2.23), although there was no dose-response relationship, and those with at least one variant allele were less likely to have the luminal B subtype (AG + AA: OR = 0.59, 95 % CI 0.36-0.98). 23771732 2013
dbSNP: rs3116068
rs3116068
Entrez Id: 9610;25855
Gene Symbol: RIN1;BRMS1
RIN1;BRMS1
CUI: C3642346
Disease:
Luminal B Breast Carcinoma 		0.010 GeneticVariation BEFREE BRMS1 rs3116068 was associated with increased likelihood of having the luminal B and the HER2-enriched tumor subtype (P trend = 0.03). 23771732 2013
dbSNP: rs3116068
rs3116068
Entrez Id: 9610;25855
Gene Symbol: RIN1;BRMS1
RIN1;BRMS1
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE BRMS1 rs3116068 was associated with increased likelihood of having the luminal B and the HER2-enriched tumor subtype (P trend = 0.03). 23771732 2013