Gene: BRCA1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357243
rs80357243
BRCA1
C 0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
dbSNP: rs1057517590
rs1057517590
BRCA1
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1555582520
rs1555582520
BRCA1
G 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357167
rs80357167
BRCA1
A 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357481
rs80357481
BRCA1
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357772
rs80357772
BRCA1
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357787
rs80357787
BRCA1
A 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357973
rs80357973
BRCA1
C 0.700 CausalMutation CLINVAR Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. 15117986

2004
dbSNP: rs80357973
rs80357973
BRCA1
C 0.700 CausalMutation CLINVAR BRCT repeats as phosphopeptide-binding modules involved in protein targeting. 14576432

2003
dbSNP: rs80357973
rs80357973
BRCA1
C 0.700 CausalMutation CLINVAR Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. 7680524

1993
dbSNP: rs80357973
rs80357973
BRCA1
C 0.700 CausalMutation CLINVAR AIDS legislation. 3175448

1988
dbSNP: rs80357973
rs80357973
BRCA1
C 0.700 CausalMutation CLINVAR Purification and characterization of a new sodium-transport decarboxylase. Methylmalonyl-CoA decarboxylase from Veillonella alcalescens. 6852015

1983
dbSNP: rs80357973
rs80357973
BRCA1
C 0.700 CausalMutation CLINVAR Diagnosis of vertebral fractures. 6848529

1983
dbSNP: rs80357973
rs80357973
BRCA1
C 0.700 CausalMutation CLINVAR Chromosome damage in G0 X-irradiated lymphocytes from patients with hereditary retinoblastoma. 6455195

1981
dbSNP: rs80357973
rs80357973
BRCA1
C 0.700 CausalMutation CLINVAR [The measuring for depth of papillary excavation by microcomputer (author's transl)]. 7257965

1980
dbSNP: rs80357973
rs80357973
BRCA1
C 0.700 CausalMutation CLINVAR [Simple and rapid technic of grouping of streptococci]. 824983

1976
dbSNP: rs1057518636
rs1057518636
BRCA1
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1060505051
rs1060505051
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131692162
rs1131692162
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555581104
rs1555581104
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1800747
rs1800747
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs28897672
rs28897672
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs28897696
rs28897696
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs397509160
rs397509160
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs397509173
rs397509173
BRCA1
T 0.700 CausalMutation CLINVAR