Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780240
rs587780240
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs587780240
rs587780240
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 GeneticVariation CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519 2009
dbSNP: rs587780240
rs587780240
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 GeneticVariation CLINVAR Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622 2006
dbSNP: rs587780240
rs587780240
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 GeneticVariation CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423 2005
dbSNP: rs587780240
rs587780240
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 GeneticVariation CLINVAR Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. 15285897 2004