AMPD1, adenosine monophosphate deaminase 1, 270

N. diseases: 106; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs926938
rs926938
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C0004352
Disease:
Autistic Disorder
A 0.800 GeneticVariation GWASDB Common genetic variants on 1p13.2 associate with risk of autism. 24189344 2014
dbSNP: rs926938
rs926938
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C0004352
Disease:
Autistic Disorder
A 0.800 GeneticVariation GWASCAT Common genetic variants on 1p13.2 associate with risk of autism. 24189344 2014
dbSNP: rs121912682
rs121912682
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C3714933
Disease:
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
T 0.800 GeneticVariation CLINVAR First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. 11102975 2000
dbSNP: rs121912682
rs121912682
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C3714933
Disease:
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
0.800 GeneticVariation UNIPROT First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. 11102975 2000
dbSNP: rs121912682
rs121912682
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C3714933
Disease:
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
T 0.800 CausalMutation CLINVAR
dbSNP: rs35859650
rs35859650
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C3714933
Disease:
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
0.800 GeneticVariation UNIPROT
dbSNP: rs35859650
rs35859650
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C3714933
Disease:
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
A 0.800 CausalMutation CLINVAR
dbSNP: rs139582106
rs139582106
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C3714933
Disease:
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
A 0.700 GeneticVariation CLINVAR
dbSNP: rs34526199
rs34526199
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C3714933
Disease:
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
A 0.700 GeneticVariation CLINVAR
dbSNP: rs776131096
rs776131096
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE The absence of TYMS 1494 del6 and FPGS rs10106 and presence of MTHFR C677T predict adverse events in RA patients treated with MTX. 27992285 2017
dbSNP: rs17602729
rs17602729
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C0036690
Disease:
Septicemia
0.010 GeneticVariation BEFREE The common 34C>T loss-of-function variant of AMPD1 (rs17602729) is associated with increased adenosine formation, but effects on immune function and outcome in sepsis patients are unknown. 26529652 2015
dbSNP: rs17602729
rs17602729
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C0243026
Disease:
Sepsis
0.010 GeneticVariation BEFREE The common 34C>T loss-of-function variant of AMPD1 (rs17602729) is associated with increased adenosine formation, but effects on immune function and outcome in sepsis patients are unknown. 26529652 2015
dbSNP: rs749303395
rs749303395
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C0018801
Disease:
Heart failure
0.010 GeneticVariation BEFREE Frequencies of AMPD1 C34T mutation, as well as novel A99G, G512A, IVS4-6delT, and C784T sequence alterations, were similar in the three groups, but 860T mutated allele was less frequent in the combined CAD+ HF- and HF+ groups than in the controls (1.7% vs. 4.3%, p=0.040). 21108053 2011
dbSNP: rs749303395
rs749303395
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Frequencies of AMPD1 C34T mutation, as well as novel A99G, G512A, IVS4-6delT, and C784T sequence alterations, were similar in the three groups, but 860T mutated allele was less frequent in the combined CAD+ HF- and HF+ groups than in the controls (1.7% vs. 4.3%, p=0.040). 21108053 2011
dbSNP: rs749303395
rs749303395
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C0018802
Disease:
Congestive heart failure
0.010 GeneticVariation BEFREE Frequencies of AMPD1 C34T mutation, as well as novel A99G, G512A, IVS4-6delT, and C784T sequence alterations, were similar in the three groups, but 860T mutated allele was less frequent in the combined CAD+ HF- and HF+ groups than in the controls (1.7% vs. 4.3%, p=0.040). 21108053 2011