ALPK2, alpha kinase 2, 115701

N. diseases: 19; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12960082
rs12960082
Entrez Id: 115701
Gene Symbol: ALPK2
ALPK2
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs76726049
rs76726049
Entrez Id: 115701
Gene Symbol: ALPK2
ALPK2
CUI: C0002395
Disease:
Alzheimer's Disease 		C 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. 30617256 2019
dbSNP: rs8086790
rs8086790
Entrez Id: 115701
Gene Symbol: ALPK2
ALPK2
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: rs8086790
rs8086790
Entrez Id: 115701
Gene Symbol: ALPK2
ALPK2
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: rs55674018
rs55674018
Entrez Id: 115701
Gene Symbol: ALPK2
ALPK2
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE We identified that one of the ALPK2 germline variants, rs55674018 (p.Q1853E), was significantly associated with the presence of cancer (adjusted odds ratio(OR)=4.39; 95% confidence interval(CI)=1.31-14.78, p=0.001). 28668886 2017
dbSNP: rs55674018
rs55674018
Entrez Id: 115701
Gene Symbol: ALPK2
ALPK2
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE We identified that one of the ALPK2 germline variants, rs55674018 (p.Q1853E), was significantly associated with the presence of cancer (adjusted odds ratio(OR)=4.39; 95% confidence interval(CI)=1.31-14.78, p=0.001). 28668886 2017