Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767095759
rs767095759
PFKM
G 0.700 CausalMutation CLINVAR Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance. 9389749

1997
dbSNP: rs767095759
rs767095759
PFKM
G 0.700 CausalMutation CLINVAR Muscle phosphofructokinase deficiency in two generations. 8880699

1996
dbSNP: rs767095759
rs767095759
PFKM
G 0.700 CausalMutation CLINVAR Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. 8037209

1994