Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55641580
rs55641580
Entrez Id: 479
Gene Symbol: ATP12A
ATP12A
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs55641580
rs55641580
Entrez Id: 479
Gene Symbol: ATP12A
ATP12A
CUI: C0428883
Disease:
Diastolic blood pressure 		C 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs146053308
rs146053308
Entrez Id: 479
Gene Symbol: ATP12A
ATP12A
CUI: C0520739
Disease:
Hereditary pyropoikilocytosis 		0.010 GeneticVariation BEFREE An adult form of hypophosphatasia (HPP) was diagnosed from low serum alkaline phosphatase (ALP), and tissue nonspecific isoenzyme of ALP (TNSALP) mutation analysis revealing 2 heterozygous mutations: c.299C>T (p. T100M) and c.571G>A (p. E191K). 26992955 2016
dbSNP: rs146053308
rs146053308
Entrez Id: 479
Gene Symbol: ATP12A
ATP12A
CUI: C0020630
Disease:
Hypophosphatasia 		0.010 GeneticVariation BEFREE An adult form of hypophosphatasia (HPP) was diagnosed from low serum alkaline phosphatase (ALP), and tissue nonspecific isoenzyme of ALP (TNSALP) mutation analysis revealing 2 heterozygous mutations: c.299C>T (p. T100M) and c.571G>A (p. E191K). 26992955 2016
dbSNP: rs146927457
rs146927457
Entrez Id: 479
Gene Symbol: ATP12A
ATP12A
CUI: C0020630
Disease:
Hypophosphatasia 		0.010 GeneticVariation BEFREE An adult form of hypophosphatasia (HPP) was diagnosed from low serum alkaline phosphatase (ALP), and tissue nonspecific isoenzyme of ALP (TNSALP) mutation analysis revealing 2 heterozygous mutations: c.299C>T (p. T100M) and c.571G>A (p. E191K). 26992955 2016
dbSNP: rs146927457
rs146927457
Entrez Id: 479
Gene Symbol: ATP12A
ATP12A
CUI: C0520739
Disease:
Hereditary pyropoikilocytosis 		0.010 GeneticVariation BEFREE An adult form of hypophosphatasia (HPP) was diagnosed from low serum alkaline phosphatase (ALP), and tissue nonspecific isoenzyme of ALP (TNSALP) mutation analysis revealing 2 heterozygous mutations: c.299C>T (p. T100M) and c.571G>A (p. E191K). 26992955 2016
dbSNP: rs146486002
rs146486002
Entrez Id: 479
Gene Symbol: ATP12A
ATP12A
CUI: C0374997
Disease:
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		0.010 GeneticVariation BEFREE Change in antibiotic resistance of Helicobacter pylori strains and the effect of A2143G point mutation of 23S rRNA on the eradication of H. pylori in a single center of Korea. 20179610 2010