ACE, angiotensin I converting enzyme, 1636

N. diseases: 1082; N. variants: 82
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149155892
rs149155892
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4291
rs4291
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs4311
rs4311
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease 		0.700 GeneticVariation GWASCAT GWAS on family history of Alzheimer's disease. 29777097 2018
dbSNP: rs4344
rs4344
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs4295
rs4295
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0428883
Disease:
Diastolic blood pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs4295
rs4295
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0871470
Disease:
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs4308
rs4308
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0428883
Disease:
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. 28135244 2017
dbSNP: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0523465
Disease:
Serum albumin measurement 		G 0.700 GeneticVariation GWASDB Genetic determinants influencing human serum metabolome among African Americans. 24625756 2014
dbSNP: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0523465
Disease:
Serum albumin measurement 		A 0.700 GeneticVariation GWASDB Genetic determinants influencing human serum metabolome among African Americans. 24625756 2014
dbSNP: rs4351
rs4351
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0523465
Disease:
Serum albumin measurement 		A 0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs28730839
rs28730839
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs28730839
rs28730839
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs797045079
rs797045079
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome 		C 0.700 CausalMutation CLINVAR Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. 22095942 2012
dbSNP: rs4329
rs4329
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0337438
Disease:
Glucose measurement 		G 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
dbSNP: rs4329
rs4329
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0495706
Disease:
elevated blood glucose level 		G 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
dbSNP: rs121912703
rs121912703
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C1862874
Disease:
ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912704
rs121912704
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs387906576
rs387906576
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs397514688
rs397514688
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397514689
rs397514689
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs778390161
rs778390161
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs779188587
rs779188587
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020538
Disease:
Hypertensive disease 		0.100 GeneticVariation BEFREE The allele frequency of AGT M235T differed significantly between group 1 (patients with simple renal cysts and hypertension) and normal individuals (p < 0.05). 23907112 2015
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0085580
Disease:
Essential Hypertension 		0.100 GeneticVariation BEFREE The M235T variant of the AGT is significantly associated with female hypertensives and ACE DD variant could be a risk allele for essential hypertension in south India. 24860821 2014
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020538
Disease:
Hypertensive disease 		0.100 GeneticVariation BEFREE Gene polymorphisms of adducin GLY460TRP, ACE I/D, AND AGT M235T in pediatric hypertension patients. 25262176 2014