Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation BEFREE The hazard ratio for total mortality was 4.0 (1.2-13; P = 0.01) and for cause-specific mortality by neoplasms was 13 (3.6-49; P = 0.0001) in patients with C282Y/C282Y versus wild type. 23801727

2013
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation BEFREE Sequencing analysis of the shifted bands in three of 36 cases (in both, the tumor and matching normal tissue of the same individuals) revealed the cysteine to tyrosine substitution at amino acid residue 282</span> (C282Y) in the protein. 16012706

2005
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation BEFREE However, nine (20.9%) of the 43 patients with alcoholic cirrhosis and hepatocellular carcinoma were heterozygous for the C282Y mutation, compared with six (4.4%) of the 136 patients without tumor (p = 0.002). 12003382

2002