Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10517025
rs10517025
Entrez Id: 10396
Gene Symbol: ATP8A1
ATP8A1
CUI: C2699541
Disease:
Cytokine Measurement
A 0.800 GeneticVariation GWASDB Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
dbSNP: rs10517025
rs10517025
Entrez Id: 10396
Gene Symbol: ATP8A1
ATP8A1
CUI: C2699541
Disease:
Cytokine Measurement
A 0.800 GeneticVariation GWASCAT Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
dbSNP: rs3749530
rs3749530
Entrez Id: 10396
Gene Symbol: ATP8A1
ATP8A1
CUI: C0524957
Disease:
Corneal Topography
0.700 GeneticVariation GWASDB Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus. 22003120 2011
dbSNP: rs1260625356
rs1260625356
Entrez Id: 10396
Gene Symbol: ATP8A1
ATP8A1
CUI: C0002876
Disease:
Congenital dyserythropoietic anemia
0.010 GeneticVariation BEFREE Type IV congenital dyserythropoietic anemia (CDA) is caused by a monoallelic mutation at the second zinc finger of KLF1 (c.973G>A, p.E325K). 30876823 2019