Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3807989
rs3807989
CAV1
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		G 0.870 GeneticVariation GWASDB Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366

2012
dbSNP: rs3807989
rs3807989
CAV1
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		G 0.870 GeneticVariation GWASCAT Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366

2012
dbSNP: rs11773845
rs11773845
CAV1
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019
dbSNP: rs11773845
rs11773845
CAV1
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		A 0.800 GeneticVariation GWASCAT Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. 30679814

2019
dbSNP: rs11773845
rs11773845
CAV1
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		C 0.800 GeneticVariation GWASCAT Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. 25035420

2014
dbSNP: rs11773845
rs11773845
CAV1
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		A 0.800 GeneticVariation GWASCAT Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts. 23139255

2012
dbSNP: rs11773845
rs11773845
CAV1
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		A 0.800 GeneticVariation GWASDB Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts. 23139255

2012
dbSNP: rs3807989
rs3807989
CAV1
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019
dbSNP: rs3807989
rs3807989
CAV1
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		A 0.800 GeneticVariation GWASCAT PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. 30046033

2018
dbSNP: rs3807989
rs3807989
CAV1
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		A 0.800 GeneticVariation GWASCAT Genome-wide association study of PR interval in Hispanics/Latinos identifies novel locus at ID2. 29127183

2018
dbSNP: rs3807989
rs3807989
CAV1
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		A 0.800 GeneticVariation GWASDB Genome-wide association study of PR interval. 20062060

2010
dbSNP: rs3807989
rs3807989
CAV1
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		A 0.800 GeneticVariation GWASCAT Several common variants modulate heart rate, PR interval and QRS duration. 20062063

2010
dbSNP: rs3807989
rs3807989
CAV1
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		A 0.800 GeneticVariation GWASCAT Genome-wide association study of PR interval. 20062060

2010
dbSNP: rs1213469537
rs1213469537
CAV1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.780 GeneticVariation UNIPROT

dbSNP: rs11773845
rs11773845
CAV1
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		A 0.710 GeneticVariation GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737

2018
dbSNP: rs11773845
rs11773845
CAV1
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		A 0.710 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015

2018
dbSNP: rs11773845
rs11773845
CAV1
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		A 0.710 GeneticVariation GWASCAT Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 28416818

2017
dbSNP: rs1049334
rs1049334
CAV1
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		G 0.700 GeneticVariation GWASCAT Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. 28416822

2017
dbSNP: rs121434501
rs121434501
CAV1
CUI: C2675861
Disease: Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Congenital Generalized, Type 3 		T 0.700 CausalMutation CLINVAR

dbSNP: rs13242816
rs13242816
CAV1
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity) 		T 0.700 GeneticVariation GWASCAT Fifteen Genetic Loci Associated With the Electrocardiographic P Wave. 28794112

2017
dbSNP: rs1997572
rs1997572
CAV1
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		G 0.700 GeneticVariation GWASCAT Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 28416818

2017
dbSNP: rs3801995
rs3801995
CAV1
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity) 		T 0.700 GeneticVariation GWASCAT Fifteen Genetic Loci Associated With the Electrocardiographic P Wave. 28794112

2017
dbSNP: rs587777017
rs587777017
CAV1
CUI: C3809192
Disease: PULMONARY HYPERTENSION, PRIMARY, 3
PULMONARY HYPERTENSION, PRIMARY, 3 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587780295
rs587780295
CAV1
CUI: C3809192
Disease: PULMONARY HYPERTENSION, PRIMARY, 3
PULMONARY HYPERTENSION, PRIMARY, 3 		A 0.700 CausalMutation CLINVAR

dbSNP: rs797044871
rs797044871
CAV1
CUI: C3809192
Disease: PULMONARY HYPERTENSION, PRIMARY, 3
PULMONARY HYPERTENSION, PRIMARY, 3 		C 0.700 CausalMutation CLINVAR Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. 25898808

2015