BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897743
rs28897743
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 GeneticVariation UNIPROT A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138 2013
dbSNP: rs28897743
rs28897743
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 GeneticVariation UNIPROT A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596 2011
dbSNP: rs28897743
rs28897743
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 GeneticVariation UNIPROT Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 16825431 2007
dbSNP: rs28897743
rs28897743
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 GeneticVariation UNIPROT Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 14670928 2004
dbSNP: rs28897743
rs28897743
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 GeneticVariation UNIPROT Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. 14559878 2003
dbSNP: rs80358979
rs80358979
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 GeneticVariation UNIPROT Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. 14559878 2003
dbSNP: rs28897743
rs28897743
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 GeneticVariation UNIPROT Biallelic inactivation of BRCA2 in Fanconi anemia. 12065746 2002
dbSNP: rs28897743
rs28897743
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28897743
rs28897743
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs80358979
rs80358979
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1555286294
rs1555286294
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		A 0.700 CausalMutation CLINVAR Essential Role of BRCA2 in Ovarian Development and Function. 30207912 2018
dbSNP: rs1566260827
rs1566260827
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		C 0.700 CausalMutation CLINVAR Essential Role of BRCA2 in Ovarian Development and Function. 30207912 2018
dbSNP: rs1566232471
rs1566232471
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs276174859
rs276174859
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		AG 0.700 CausalMutation CLINVAR
dbSNP: rs28897756
rs28897756
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397507327
rs397507327
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397507404
rs397507404
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397508045
rs397508045
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs41293497
rs41293497
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs80358391
rs80358391
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80358427
rs80358427
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80358435
rs80358435
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80358557
rs80358557
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80358695
rs80358695
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		T 0.700 CausalMutation CLINVAR