CAV1, caveolin 1, 857

N. diseases: 633; N. variants: 29
Disease: Familial generalized lipodystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434501
rs121434501
Entrez Id: 857
Gene Symbol: CAV1
CAV1
CUI: C0221032
Disease:
Familial generalized lipodystrophy 		0.010 GeneticVariation BEFREE A homozygous nonsense mutation (p.Glu38X) was identified in CAV1 in a patient with BSCL born from a consanguineous union. 18211975 2008