Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11205354
rs11205354
Entrez Id: 51107;79630
Gene Symbol: APH1A;C1orf54
APH1A;C1orf54
CUI: C1518922
Disease:
peak expiratory flow (procedure) 		A 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
dbSNP: rs10788873
rs10788873
Entrez Id: 51107;79630
Gene Symbol: APH1A;C1orf54
APH1A;C1orf54
CUI: C0008810
Disease:
Circadian Rhythms 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits. 28604731 2017
dbSNP: rs10157197
rs10157197
Entrez Id: 51107;79630
Gene Symbol: APH1A;C1orf54
APH1A;C1orf54
CUI: C0008810
Disease:
Circadian Rhythms 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies novel loci for chronotype in 100,420 individuals from the UK Biobank. 26955885 2016
dbSNP: rs10157197
rs10157197
Entrez Id: 51107;79630
Gene Symbol: APH1A;C1orf54
APH1A;C1orf54
CUI: C0008810
Disease:
Circadian Rhythms 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. 27494321 2016
dbSNP: rs3754048
rs3754048
Entrez Id: 51107;79630
Gene Symbol: APH1A;C1orf54
APH1A;C1orf54
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE We previously described an association between Alzheimer's disease (AD) and a single-nucleotide polymorphism -980C/G (rs3754048) in the promoter of the anterior pharynx-defective-1a (APH-1A) gene. 21443683 2011