Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357268
rs80357268
BRCA1
0.010 GeneticVariation BEFREE BRCA1, p.(Val1833Met) is possibly a disease-associated variant, supported by a likelihood ratio of 1.88, while a correlation to ovarian cancer is suspected. 31447071

2019
dbSNP: rs80357327
rs80357327
BRCA1
0.010 GeneticVariation BEFREE We have also identified a BRCA1 nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in another Greenlandic individual with ovarian cancer. 20437199

2010
dbSNP: rs80357517
rs80357517
BRCA1
0.010 GeneticVariation BEFREE Cumulative risk analysis revealed 3 unfavorable variants that increased significantly the risk of developing ovarian cancer (p.Ile1145 = ABCB1+ p.Asp1853Asn ATM+ p.Ser406Ala ATP7B- OR 7,47; p = 0,002) and significantly modified the progression free survival (PFS) of the patients, and also two favorable genotypes which protected against ovarian cancer (p.Arg952Lys ATP7B+ p.Arg72Pro TP53- OR 0,50; p = 0,008). 25591549

2015
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: rs879255288
rs879255288
BRCA1
0.010 GeneticVariation BEFREE Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer. 20437199

2010
dbSNP: rs28897672
rs28897672
BRCA1
C 0.730 CausalMutation CLINVAR

dbSNP: rs41293459
rs41293459
BRCA1
T 0.710 GeneticVariation CLINVAR

dbSNP: rs1060502333
rs1060502333
BRCA1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555578360
rs1555578360
BRCA1
CT 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1555587401
rs1555587401
BRCA1
T 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1555588460
rs1555588460
BRCA1
T 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1567788936
rs1567788936
BRCA1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1567790190
rs1567790190
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1567792938
rs1567792938
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567797661
rs1567797661
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567797787
rs1567797787
BRCA1
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1567798003
rs1567798003
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1567800087
rs1567800087
BRCA1
ACTGGCCAGTAAGTCTATTTTCTCTGAAGAAC 0.700 CausalMutation CLINVAR

dbSNP: rs1567801576
rs1567801576
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs273901746
rs273901746
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs397507215
rs397507215
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs397509071
rs397509071
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs397509236
rs397509236
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs41293465
rs41293465
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs62625308
rs62625308
BRCA1
A 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004