AAK1, AP2 associated kinase 1, 22848

N. diseases: 16; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12987661
rs12987661
Entrez Id: 22848
Gene Symbol: AAK1
AAK1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12987661
rs12987661
Entrez Id: 22848
Gene Symbol: AAK1
AAK1
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs2311837
rs2311837
Entrez Id: 22848
Gene Symbol: AAK1
AAK1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs57171084
rs57171084
Entrez Id: 22848;112268437
Gene Symbol: AAK1;LOC112268437
AAK1;LOC112268437
CUI: C1314691
Disease:
Age at menarche 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs5831974
rs5831974
Entrez Id: 22848
Gene Symbol: AAK1
AAK1
CUI: C0011334
Disease:
Dental caries 		0.700 GeneticVariation GWASCAT Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data. 31235808 2019