BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: bilateral breast cancer ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064794662
rs1064794662
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0281267
Disease:
bilateral breast cancer 		0.010 GeneticVariation BEFREE Regarding the genotype-phenotype relation, mutation c.212 + 1G > A appeared in an important percentage of breast and ovarian cancer cases, c.5123C > A in bilateral breast cancer and c.9117G > A in bilateral breast cancer and ovarian cancer. 28477318 2017
dbSNP: rs80357287
rs80357287
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C0281267
Disease:
bilateral breast cancer 		0.010 GeneticVariation BEFREE Regarding the genotype-phenotype relation, mutation c.212 + 1G > A appeared in an important percentage of breast and ovarian cancer cases, c.5123C > A in bilateral breast cancer and c.9117G > A in bilateral breast cancer and ovarian cancer. 28477318 2017
dbSNP: rs879255477
rs879255477
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0281267
Disease:
bilateral breast cancer 		0.010 GeneticVariation BEFREE Regarding the genotype-phenotype relation, mutation c.212 + 1G > A appeared in an important percentage of breast and ovarian cancer cases, c.5123C > A in bilateral breast cancer and c.9117G > A in bilateral breast cancer and ovarian cancer. 28477318 2017