BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45553935
rs45553935
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C4554406
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.800 GeneticVariation UNIPROT Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. 29133208 2018
dbSNP: rs45553935
rs45553935
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C4554406
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.800 GeneticVariation UNIPROT Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 25472942 2015
dbSNP: rs45553935
rs45553935
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C4554406
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.800 GeneticVariation UNIPROT Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. 23269703 2013
dbSNP: rs45553935
rs45553935
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C4554406
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		G 0.800 CausalMutation CLINVAR