rs9920, CAV1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Reticulocyte count (procedure)
CUI: C0206161
Disease: Reticulocyte count (procedure)
0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
QT interval feature (observable entity)
CUI: C0429028
Disease: QT interval feature (observable entity)
0.700 GeneticVariation GWASCAT Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. 24952745 2014
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.010 GeneticVariation BEFREE Three CAV1 SNP (rs926198, rs959173, rs9920) displaying the most significant associations with SSc and/or clinical phenotypes were then genotyped in an Italian population (791 SSc patients, 843 controls). 22402147 2012