Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729201
rs794729201
ELN
G 0.700 GeneticVariation CLINVAR New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. 21309044

2011

dbSNP: rs794729201
rs794729201
ELN
G 0.700 GeneticVariation CLINVAR Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 18348261

2008

dbSNP: rs794729201
rs794729201
ELN
G 0.700 GeneticVariation CLINVAR Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. 9215671

1997

dbSNP: rs1365573219
rs1365573219
0.010 GeneticVariation BEFREE We report an 8-year-old male with a clinical diagnosis of autosomal dominant cutis laxa (ADCL) with progeroid features and a novel de novo missense mutation in ALDH18A1 (NM_002860.3: c.377G>A (p.Arg126His)). 28228640

2017

dbSNP: rs768323248
rs768323248
0.010 GeneticVariation BEFREE We report an 8-year-old male with a clinical diagnosis of autosomal dominant cutis laxa (ADCL) with progeroid features and a novel de novo missense mutation in ALDH18A1 (NM_002860.3: c.377G>A (p.Arg126His)). 28228640

2017