FANCB, FA complementation group B, 2187

N. diseases: 278; N. variants: 6
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569083185
rs1569083185
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
CUI: C1845292
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		C 0.700 CausalMutation CLINVAR X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. 21910217 2011
dbSNP: rs1569083464
rs1569083464
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
CUI: C1845292
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		A 0.700 CausalMutation CLINVAR X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. 21910217 2011
dbSNP: rs1569083679
rs1569083679
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
CUI: C1845292
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		C 0.700 CausalMutation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
dbSNP: rs1569085810
rs1569085810
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
CUI: C1845292
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		T 0.700 CausalMutation CLINVAR Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. 16679491 2006
dbSNP: rs1569083679
rs1569083679
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
CUI: C1845292
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		C 0.700 CausalMutation CLINVAR X-linked inheritance of Fanconi anemia complementation group B. 15502827 2004