Gene: AHCY ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918608
rs121918608
AHCY
C 0.700 GeneticVariation CLINVAR Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. 26095522

2016
dbSNP: rs121918608
rs121918608
AHCY
C 0.700 GeneticVariation CLINVAR Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. 26527160

2015
dbSNP: rs121918608
rs121918608
AHCY
C 0.700 GeneticVariation CLINVAR Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. 22959829

2012
dbSNP: rs121918608
rs121918608
AHCY
C 0.700 GeneticVariation CLINVAR S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. 20852937

2010
dbSNP: rs121918608
rs121918608
AHCY
C 0.700 GeneticVariation CLINVAR S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. 16736098

2006