Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2254958
rs2254958
Entrez Id: 5610
Gene Symbol: EIF2AK2
EIF2AK2
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs2254958
rs2254958
Entrez Id: 5610
Gene Symbol: EIF2AK2
EIF2AK2
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs760326374
rs760326374
Entrez Id: 5610
Gene Symbol: EIF2AK2
EIF2AK2
CUI: C0019163
Disease:
Hepatitis B 		0.010 GeneticVariation BEFREE IFNA2 p.Ala120Thr impairs the inhibitory activity of Interferon-α2 against the hepatitis B virus through altering its binding to the receptor. 28958921 2017
dbSNP: rs2254958
rs2254958
Entrez Id: 5610
Gene Symbol: EIF2AK2
EIF2AK2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		0.010 GeneticVariation BEFREE However, no significant association was determined between the rs2254958 polymorphism and the development of IBD, or clinical outcome. 25607115 2015
dbSNP: rs2254958
rs2254958
Entrez Id: 5610
Gene Symbol: EIF2AK2
EIF2AK2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE An EIF2AK2 SNP (rs2254958) located in the 5'-UTR region within an exonic splicing enhancer was found to be associated with AD. 17420072 2008