AHCY, adenosylhomocysteinase, 191

N. diseases: 107; N. variants: 37
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C3151058
Disease:
S-adenosylhomocysteine hydrolase deficiency 		0.800 GeneticVariation UNIPROT S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. 20852937 2010
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C3151058
Disease:
S-adenosylhomocysteine hydrolase deficiency 		0.800 GeneticVariation UNIPROT S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome. 19177456 2009
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C3151058
Disease:
S-adenosylhomocysteine hydrolase deficiency 		0.800 GeneticVariation UNIPROT S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. 16736098 2006
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C3151058
Disease:
S-adenosylhomocysteine hydrolase deficiency 		0.800 GeneticVariation UNIPROT S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. 15024124 2004
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C3151058
Disease:
S-adenosylhomocysteine hydrolase deficiency 		C 0.800 CausalMutation CLINVAR
dbSNP: rs150653367
rs150653367
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C0035410
Disease:
Rhabdomyolysis 		C 0.700 GeneticVariation CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239 2017
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. 26095522 2016
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. 26527160 2015
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. 22959829 2012
dbSNP: rs1205349
rs1205349
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C0919677
Disease:
Protein C measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs1205349
rs1205349
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1168438
Disease:
Protein C antigen measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs1205350
rs1205350
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C0919677
Disease:
Protein C measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs1205350
rs1205350
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1168438
Disease:
Protein C antigen measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs1205357
rs1205357
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C0919677
Disease:
Protein C measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs1205357
rs1205357
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1168438
Disease:
Protein C antigen measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs121918608
rs121918608
Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1849265
Disease:
Overgrowth 		C 0.700 GeneticVariation CLINVAR S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. 20852937 2010
dbSNP: rs2378132
rs2378132
Entrez Id: 191;434
Gene Symbol: AHCY;ASIP
AHCY;ASIP
CUI: C1168438
Disease:
Protein C antigen measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs2378132
rs2378132
Entrez Id: 191;434
Gene Symbol: AHCY;ASIP
AHCY;ASIP
CUI: C0919677
Disease:
Protein C measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs6088443
rs6088443
Entrez Id: 191;434
Gene Symbol: AHCY;ASIP
AHCY;ASIP
CUI: C1168438
Disease:
Protein C antigen measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs6088443
rs6088443
Entrez Id: 191;434
Gene Symbol: AHCY;ASIP
AHCY;ASIP
CUI: C0919677
Disease:
Protein C measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs6088454
rs6088454
Entrez Id: 191;434
Gene Symbol: AHCY;ASIP
AHCY;ASIP
CUI: C0919677
Disease:
Protein C measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs6088454
rs6088454
Entrez Id: 191;434
Gene Symbol: AHCY;ASIP
AHCY;ASIP
CUI: C1168438
Disease:
Protein C antigen measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs6120580
rs6120580
Entrez Id: 191;434
Gene Symbol: AHCY;ASIP
AHCY;ASIP
CUI: C1168438
Disease:
Protein C antigen measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs6120580
rs6120580
Entrez Id: 191;434
Gene Symbol: AHCY;ASIP
AHCY;ASIP
CUI: C0919677
Disease:
Protein C measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010