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: rs797045176
rs797045176
CAV1
T 0.700 CausalMutation CLINVAR Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. 25898808

2015
dbSNP: rs121434501
rs121434501
CAV1
T 0.700 CausalMutation CLINVAR