Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897701
rs28897701
0.700 GeneticVariation UNIPROT

dbSNP: rs41293521
rs41293521
0.700 GeneticVariation UNIPROT

dbSNP: rs4987046
rs4987046
0.700 GeneticVariation UNIPROT

dbSNP: rs56070345
rs56070345
0.700 GeneticVariation UNIPROT

dbSNP: rs587781803
rs587781803
A 0.700 CausalMutation CLINVAR

dbSNP: rs80358479
rs80358479
0.700 GeneticVariation UNIPROT

dbSNP: rs80358981
rs80358981
T 0.700 CausalMutation CLINVAR

dbSNP: rs80359078
rs80359078
0.700 GeneticVariation UNIPROT

dbSNP: rs80359176
rs80359176
0.700 GeneticVariation UNIPROT

dbSNP: rs80359477
rs80359477
G 0.700 CausalMutation CLINVAR

dbSNP: rs144848
rs144848
0.040 GeneticVariation BEFREE The subgroup analysis for serous cancer subgroup showed that the significant association could be detected under recessive model (OR = 1.38, 95% CI, 1.01-1.89, P = 0.04) and under homozygote comparison (OR = 1.46, 95% CI, 1.06-2.01, P = 0.022).Our meta-analysis suggests that the N372H polymorphism is associated with susceptibility of ovarian cancer. 26496279

2015

dbSNP: rs144848
rs144848
0.040 GeneticVariation BEFREE Moreover, stratified analyses by the cancer type and source of control observed significantly increased risk associated with BRCA2 N372H in subgroups with ovarian cancer, non-Hodgkin lymphoma and population-based controls, but not breast cancer or hospital-based controls. 25348552

2014

dbSNP: rs144848
rs144848
0.040 GeneticVariation BEFREE The HH genotype of the nonconservative amino acid substitution polymorphism N37</span>2H in the BRCA2 gene was reported to be associated with a 1.3- to 1.5-fold increase in risk of both breast and ovarian cancer. 15668505

2005

dbSNP: rs144848
rs144848
0.040 GeneticVariation BEFREE We have examined whether BRCA2 N372</span>H or common amino acid-changing polymorphisms in BRCA1 predispose to ovarian cancer. 14555511

2003

dbSNP: rs11571833
rs11571833
0.020 GeneticVariation BEFREE However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer. 29767749

2018

dbSNP: rs11571833
rs11571833
0.020 GeneticVariation BEFREE The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10(-) (6)) and invasive ovarian cancer</span> (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10(-3)). 26586665

2016

dbSNP: rs876658943
rs876658943
0.010 GeneticVariation BEFREE The association between BRCA2 Arg372His polymorphism and ovarian cancer susceptibility was calculated using pooled odds ratios (ORs) appropriately derived from fixed effects models. 26111274

2015

dbSNP: rs55854959
rs55854959
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: rs80358721
rs80358721
0.010 GeneticVariation BEFREE Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2 mutation [5193C>G (Y1655X)] carrier with ovarian carcinoma with acquired cisplatin resistance and a secondary BRCA2 mutation [5193C>T (Y1655Y)] that canceled the inherited mutation. 19654294

2009