Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371296953
rs371296953
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
CUI: C0543514
Disease:
Glycogen Storage Disease IXB 		T 0.700 GeneticVariation CLINVAR Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. 25070466 2015
dbSNP: rs371296953
rs371296953
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
CUI: C0543514
Disease:
Glycogen Storage Disease IXB 		T 0.700 GeneticVariation CLINVAR Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. 21646031 2012
dbSNP: rs121918022
rs121918022
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
CUI: C0543514
Disease:
Glycogen Storage Disease IXB 		0.700 GeneticVariation UNIPROT Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). 9402963 1997
dbSNP: rs34667348
rs34667348
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
CUI: C0268147
Disease:
Glycogen storage disease, type IX 		T 0.700 GeneticVariation CLINVAR Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). 9215682 1997
dbSNP: rs34667348
rs34667348
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
CUI: C0543514
Disease:
Glycogen Storage Disease IXB 		T 0.700 CausalMutation CLINVAR Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). 9215682 1997
dbSNP: rs121918021
rs121918021
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
CUI: C0543514
Disease:
Glycogen Storage Disease IXB 		A 0.700 CausalMutation CLINVAR
dbSNP: rs150902092
rs150902092
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT
dbSNP: rs797044442
rs797044442
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
CUI: C0543514
Disease:
Glycogen Storage Disease IXB 		G 0.700 CausalMutation CLINVAR