Gene: CAV1 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044871
rs797044871
CAV1
C 0.700 CausalMutation CLINVAR Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. 25898808

2015
dbSNP: rs879255566
rs879255566
CAV1
A 0.700 CausalMutation CLINVAR Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. 22474227

2012
dbSNP: rs587777017
rs587777017
CAV1
C 0.700 CausalMutation CLINVAR

dbSNP: rs587780295
rs587780295
CAV1
A 0.700 CausalMutation CLINVAR