Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55770810
rs55770810
BRCA1
A 0.800 CausalMutation CLINVAR

dbSNP: rs55770810
rs55770810
BRCA1
0.800 GeneticVariation UNIPROT

dbSNP: rs28897672
rs28897672
BRCA1
0.730 GeneticVariation UNIPROT

dbSNP: rs1800726
rs1800726
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs1800751
rs1800751
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs1800757
rs1800757
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs273900729
rs273900729
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs80187739
rs80187739
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs80356898
rs80356898
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs80356993
rs80356993
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs80357233
rs80357233
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80357462
rs80357462
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs80357474
rs80357474
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs80357669
rs80357669
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs80357828
rs80357828
BRCA1
G 0.700 CausalMutation CLINVAR

dbSNP: rs28897696
rs28897696
BRCA1
0.010 GeneticVariation BEFREE Any one of four germ-line mutations in the C-terminal region found in patients with breast or ovarian cancer (Ala-1708-->Glu, Gln-1756 C+, Met-1775-->Arg, Tyr-1853 ->Stop), had markedly impaired transcription activity. 8942979

1996
dbSNP: rs1800709
rs1800709
BRCA1
0.010 GeneticVariation BEFREE R841W is likely to be an etiologically significant lesion with involvement in close to 1% (95% confidence interval of 0-1.7%) of all breast and ovarian cancers in this population. 8968716

1996
dbSNP: rs1799950
rs1799950
BRCA1
0.030 GeneticVariation BEFREE The rare form of the Q356R polymorphism was significantly ( P = 0.03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk. 10196379

1999
dbSNP: rs80357796
rs80357796
BRCA1
0.020 GeneticVariation BEFREE The rare form of the Q356R polymorphism was significantly ( P = 0.03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk. 10196379

1999
dbSNP: rs748876625
rs748876625
BRCA1
0.020 GeneticVariation BEFREE A group of 63 families from the Pomerania-Kujawy region were analyzed for three BRCA1 gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history. 14986830

2003
dbSNP: rs876660702
rs876660702
BRCA1
0.010 GeneticVariation BEFREE The BRCA1 G5193A mutation is too rare to contribute significantly to ovarian cancer in Iceland. 15571962

2004
dbSNP: rs28897672
rs28897672
BRCA1
0.730 GeneticVariation BEFREE The risk for breast cancer was 42% higher among first degree relatives of carriers of the C61G missense mutation compared to other mutations (HR = 1.42; p = 0.10) and the risk for ovarian cancer was lower than average (OR = 0.26; p = 0.03). 16227521

2006
dbSNP: rs786203319
rs786203319
BRCA1
0.020 GeneticVariation BEFREE Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk. 17220212

2007
dbSNP: rs80357750
rs80357750
BRCA1
0.020 GeneticVariation BEFREE Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk. 17220212

2007