|
rs80359636
|
|
Abnormal behavior
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations.
|
19188187 |
2009 |
|
rs80359636
|
|
Abnormal behavior
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.
|
16141007 |
2005 |
|
rs80359636
|
|
Abnormal behavior
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.
|
23628597 |
2013 |
|
rs80359636
|
|
Abnormal behavior
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Risk of breast cancer in male BRCA2 carriers.
|
20587410 |
2010 |
|
rs80359636
|
|
Abnormal behavior
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.
|
18042939 |
2007 |
|
rs80359636
|
|
Abnormal behavior
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations.
|
18855126 |
2009 |
|
rs1799943
|
|
Acute myocardial infarction
|
|
0.010 |
GeneticVariation
|
BEFREE |
The SNPs rs11571836 and rs1799943 were subsequently genotyped using the MassARRAY platform in 1,045 cases of incident MI and 1,135 controls from the South Asian subset of an international case-control study of acute MI (INTERHEART), and rs11571836 was imputed in 4,686 cases and 4500 controls from the Pakistan Risk of Myocardial Infarction Study (PROMIS).
|
22809218 |
2012 |
|
rs11571836
|
|
Acute myocardial infarction
|
|
0.010 |
GeneticVariation
|
BEFREE |
A non-significant trend towards an association between rs11571836 and lower risk of MI was observed in South Asians from INTERHEART [OR = 0.87 (95% CI: 0.75-1.01) p = 0.068], but was not evident in PROMIS [OR = 0.96 (95% CI: 0.90-1.03) p = 0.230].
|
22809218 |
2012 |
|
rs80359601
|
|
Adenocarcinoma of large intestine
|
GA |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs11571833
|
|
Adenocarcinoma of large intestine
|
T |
0.700 |
GeneticVariation
|
GWASCAT |
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
|
27197191 |
2016 |
|
rs11571818
|
|
Adenocarcinoma of large intestine
|
C |
0.700 |
GeneticVariation
|
GWASCAT |
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
|
27197191 |
2016 |
|
rs11571658
|
|
Adenocarcinoma of large intestine
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs11571833
|
|
Adenocarcinoma of lung (disorder)
|
T |
0.700 |
GeneticVariation
|
GWASCAT |
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
|
27197191 |
2016 |
|
rs11571818
|
|
Adenocarcinoma of lung (disorder)
|
C |
0.700 |
GeneticVariation
|
GWASCAT |
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
|
27197191 |
2016 |
|
rs11571833
|
|
Adult Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although no single variant showed an association which was statistically significant at the genome-wide threshold a number represented promising associations - BRCA2:c.9976A>T, p.(Lys3326Ter), which has been shown to influence breast and lung cancer risk (odds ratio (OR)=2.3, P=4.00 × 10(-4) for glioblastoma (GBM)) and IDH2:c.782G>A, p.(Arg261His) (OR=3.21, P=7.67 × 10(-3), for non-GBM).
|
26264438 |
2016 |
|
rs1135401891
|
|
Adult Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism.
|
29694413 |
2018 |
|
rs80358638
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two other kindreds each contained a Fanconi anemia-afflicted child who developed medulloblastoma; one child was of Latin American ancestry and a compound heterozygote for BRCA2*I2490T/ 5301insA and the other was African American and a compound heterozygote for BRCA2*Q3066X/E1308X.
|
14559878 |
2003 |
|
rs144848
|
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
An Asn372His homozygous variation was noted in the BRCA2 gene in the patient with medulloblastoma whereas the variation was heterozygous in the healthy father.
|
22044372 |
2011 |
|
rs144848
|
|
Adult Non-Hodgkin Lymphoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Stratified by cancer type, the rs144848 polymorphism was associated with non-Hodgkin lymphoma.
|
28418854 |
2017 |
|
rs886040738
|
|
Adult Soft Tissue Sarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Association of the germline BRCA2 missense variation Glu2663Lys with high sensitivity to trabectedin-based treatment in soft tissue sarcoma.
|
27561088 |
2016 |
|
rs80359030
|
|
Adult Soft Tissue Sarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Association of the germline BRCA2 missense variation Glu2663Lys with high sensitivity to trabectedin-based treatment in soft tissue sarcoma.
|
27561088 |
2016 |
|
rs1483012313
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life.
|
16344340 |
2005 |
|
rs1057520247
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Some examples include the alanine-to-valine substitution at codon 222 (Ala222-->Val) [DNA: C-to-T substitution at nucleo-tide 677 (677C-->T)] in methylenetetrahydrofolate reductase (NADPH) and the cofactor FAD (in relation to cardiovascular disease, migraines, and rages), the Pro187-->Ser (DNA: 609C-->T) mutation in NAD(P):quinone oxidoreductase 1 [NAD(P)H dehy-drogenase (quinone)] and FAD (in relation to cancer), the Ala44-->Gly (DNA: 131C-->G) mutation in glucose-6-phosphate 1-dehydrogenase and NADP (in relation to favism and hemolytic anemia), and the Glu487-->Lys mutation (present in one-half of Asians) in aldehyde dehydrogenase (NAD + ) and NAD (in relation to alcohol intolerance, Alzheimer disease, and cancer).
|
11916749 |
2002 |
|
rs1057520247
|
|
Anemia, Hemolytic
|
|
0.010 |
GeneticVariation
|
BEFREE |
Some examples include the alanine-to-valine substitution at codon 222 (Ala222-->Val) [DNA: C-to-T substitution at nucleo-tide 677 (677C-->T)] in methylenetetrahydrofolate reductase (NADPH) and the cofactor FAD (in relation to cardiovascular disease, migraines, and rages), the Pro187-->Ser (DNA: 609C-->T) mutation in NAD(P):quinone oxidoreductase 1 [NAD(P)H dehy-drogenase (quinone)] and FAD (in relation to cancer), the Ala44-->Gly (DNA: 131C-->G) mutation in glucose-6-phosphate 1-dehydrogenase and NADP (in relation to favism and hemolytic anemia), and the Glu487-->Lys mutation (present in one-half of Asians) in aldehyde dehydrogenase (NAD + ) and NAD (in relation to alcohol intolerance, Alzheimer disease, and cancer).
|
11916749 |
2002 |
|
rs80358972
|
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
|
0.010 |
GeneticVariation
|
BEFREE |
Pathogenic germline BRCA2 mutation [c.7480C>T (p.Arg2494*)] was identified in one male patient, resulting in a frequency of 10% for the risk-stratified patients and 0.6% for the unselected PDAC population.
|
28782087 |
2018 |