Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5752792
rs5752792
Entrez Id: 150274
Gene Symbol: HSCB
HSCB
CUI: C0202236
Disease:
Triglycerides measurement
C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs34887403
rs34887403
Entrez Id: 150274
Gene Symbol: HSCB
HSCB
CUI: C0871470
Disease:
Systolic Pressure
G 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs34887403
rs34887403
Entrez Id: 150274
Gene Symbol: HSCB
HSCB
CUI: C0428883
Disease:
Diastolic blood pressure
G 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs2236142
rs2236142
Entrez Id: 11200;150274
Gene Symbol: CHEK2;HSCB
CHEK2;HSCB
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE A hospital-based case-control study, including 1,121 cases and 1,056 controls was conducted to evaluate the association between eight selected single nucleotide polymorphisms (SNPs) (rs35514263 in <i>ATR</i>; rs492510, rs558351 in <i>CHKE1</i>; rs189037 in <i>ATM</i>; rs2236141, rs5762748, rs2236142 and rs9620817 in <i>CHEK2</i>) in ATR-CHEK1 and ATM-CHEK2 pathways and the risk of colorectal cancer in a Chinese population by using TaqMan method. 29928473 2018
dbSNP: rs2236142
rs2236142
Entrez Id: 11200;150274
Gene Symbol: CHEK2;HSCB
CHEK2;HSCB
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE A hospital-based case-control study, including 1,121 cases and 1,056 controls was conducted to evaluate the association between eight selected single nucleotide polymorphisms (SNPs) (rs35514263 in <i>ATR</i>; rs492510, rs558351 in <i>CHKE1</i>; rs189037 in <i>ATM</i>; rs2236141, rs5762748, rs2236142 and rs9620817 in <i>CHEK2</i>) in ATR-CHEK1 and ATM-CHEK2 pathways and the risk of colorectal cancer in a Chinese population by using TaqMan method. 29928473 2018
dbSNP: rs747453853
rs747453853
Entrez Id: 11200;150274
Gene Symbol: CHEK2;HSCB
CHEK2;HSCB
CUI: C0162670
Disease:
Mitochondrial Myopathies
0.010 GeneticVariation BEFREE The presence of multiple cellular defects associated with a novel G50E iron-sulfur cluster scaffold protein (ISCU) mutation leads to development of mitochondrial myopathy. 24573684 2014
dbSNP: rs747453853
rs747453853
Entrez Id: 11200;150274
Gene Symbol: CHEK2;HSCB
CHEK2;HSCB
CUI: C0026848
Disease:
Myopathy
0.010 GeneticVariation BEFREE In this report, we uncover mechanistic insights concerning how the G50E ISCU mutation in humans leads to the development of severe ISCU myopathy, using a human cell line and yeast as the model systems. 24573684 2014
dbSNP: rs2236142
rs2236142
Entrez Id: 11200;150274
Gene Symbol: CHEK2;HSCB
CHEK2;HSCB
CUI: C0152018
Disease:
Esophageal carcinoma
0.010 GeneticVariation BEFREE The CT allele of SNP rs738722 and the GC allele of SNP rs2236142 might be a protective factor of the risk for lymph node metastasis of esophageal cancer. 22201027 2012
dbSNP: rs2236142
rs2236142
Entrez Id: 11200;150274
Gene Symbol: CHEK2;HSCB
CHEK2;HSCB
CUI: C0546837
Disease:
Malignant neoplasm of esophagus
0.010 GeneticVariation BEFREE The CT allele of SNP rs738722 and the GC allele of SNP rs2236142 might be a protective factor of the risk for lymph node metastasis of esophageal cancer. 22201027 2012
dbSNP: rs2236142
rs2236142
Entrez Id: 11200;150274
Gene Symbol: CHEK2;HSCB
CHEK2;HSCB
CUI: C0014859
Disease:
Esophageal Neoplasms
0.010 GeneticVariation BEFREE The CT allele of SNP rs738722 and the GC allele of SNP rs2236142 might be a protective factor of the risk for lymph node metastasis of esophageal cancer. 22201027 2012
dbSNP: rs2236142
rs2236142
Entrez Id: 11200;150274
Gene Symbol: CHEK2;HSCB
CHEK2;HSCB
CUI: C0686619
Disease:
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE Functional variant CHEK2 rs738722 and rs2236142 might contribute to lymph node metastasis susceptibility. 22201027 2012
dbSNP: rs2236141
rs2236141
Entrez Id: 11200;150274
Gene Symbol: CHEK2;HSCB
CHEK2;HSCB
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE These results support our hypothesis that the CHEK2 rs2236141 variant modifies lung cancer susceptibility in the Chinese population by affecting CHEK2 expression. 20462940 2010
dbSNP: rs2236141
rs2236141
Entrez Id: 11200;150274
Gene Symbol: CHEK2;HSCB
CHEK2;HSCB
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE These results support our hypothesis that the CHEK2 rs2236141 variant modifies lung cancer susceptibility in the Chinese population by affecting CHEK2 expression. 20462940 2010
dbSNP: rs2236141
rs2236141
Entrez Id: 11200;150274
Gene Symbol: CHEK2;HSCB
CHEK2;HSCB
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE These results support our hypothesis that the CHEK2 rs2236141 variant modifies lung cancer susceptibility in the Chinese population by affecting CHEK2 expression. 20462940 2010