Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912703
rs121912703
ACE
CUI: C1862874
Disease: ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE
ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121912704
rs121912704
ACE
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs149155892
rs149155892
ACE
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs28730839
rs28730839
ACE
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
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
ACE
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs387906576
rs387906576
ACE
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs397514688
rs397514688
ACE
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397514689
rs397514689
ACE
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs4291
rs4291
ACE
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418

2019
dbSNP: rs4295
rs4295
ACE
CUI: C0428883
Disease: Diastolic blood pressure
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
ACE
CUI: C0871470
Disease: Systolic Pressure
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
ACE
CUI: C0428883
Disease: Diastolic blood pressure
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: rs4311
rs4311
ACE
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 GeneticVariation GWASCAT GWAS on family history of Alzheimer's disease. 29777097

2018
dbSNP: rs4329
rs4329
ACE
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		G 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157

2011
dbSNP: rs4329
rs4329
ACE
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		G 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157

2011
dbSNP: rs4343
rs4343
ACE
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		G 0.700 GeneticVariation GWASDB Genetic determinants influencing human serum metabolome among African Americans. 24625756

2014
dbSNP: rs4343
rs4343
ACE
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		A 0.700 GeneticVariation GWASDB Genetic determinants influencing human serum metabolome among African Americans. 24625756

2014
dbSNP: rs4344
rs4344
ACE
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576

2018
dbSNP: rs4351
rs4351
ACE
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		A 0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178

2013
dbSNP: rs778390161
rs778390161
ACE
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs779188587
rs779188587
ACE
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs797045079
rs797045079
ACE
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
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: rs1267969615
rs1267969615
ACE
CUI: C0020538
Disease: Hypertensive 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
ACE
CUI: C0085580
Disease: Essential Hypertension
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
ACE
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 GeneticVariation BEFREE Gene polymorphisms of adducin GLY460TRP, ACE I/D, AND AGT M235T in pediatric hypertension patients. 25262176

2014