Gene: ELN ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223518
rs863223518
ELN
C 0.700 GeneticVariation CLINVAR Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema. 22740173

2012
dbSNP: rs397516433
rs397516433
ELN
G 0.700 CausalMutation CLINVAR Domains 16 and 17 of tropoelastin in elastic fibre formation. 17037986

2007
dbSNP: rs137854452
rs137854452
ELN
T 0.700 CausalMutation CLINVAR Elastin: mutational spectrum in supravalvular aortic stenosis. 11175284

2000
dbSNP: rs1554672602
rs1554672602
ELN
AG 0.700 CausalMutation CLINVAR Elastin: mutational spectrum in supravalvular aortic stenosis. 11175284

2000
dbSNP: rs1563793627
rs1563793627
ELN
A 0.700 GeneticVariation CLINVAR Elastin: mutational spectrum in supravalvular aortic stenosis. 11175284

2000
dbSNP: rs727503030
rs727503030
ELN
A 0.700 GeneticVariation CLINVAR Elastin: mutational spectrum in supravalvular aortic stenosis. 11175284

2000
dbSNP: rs397516433
rs397516433
ELN
G 0.700 CausalMutation CLINVAR Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. 10190324

1999
dbSNP: rs137854452
rs137854452
ELN
T 0.700 CausalMutation CLINVAR Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 9215670

1997
dbSNP: rs397516433
rs397516433
ELN
G 0.700 CausalMutation CLINVAR Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 9215670

1997
dbSNP: rs727503027
rs727503027
ELN
G 0.700 CausalMutation CLINVAR Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 9215670

1997
dbSNP: rs727503030
rs727503030
ELN
A 0.700 GeneticVariation CLINVAR Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 9215670

1997
dbSNP: rs727503783
rs727503783
ELN ; ELN-AS1
C 0.700 CausalMutation CLINVAR Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. 9215671

1997
dbSNP: rs137854453
rs137854453
ELN ; ELN-AS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs137854454
rs137854454
ELN
G 0.700 CausalMutation CLINVAR

dbSNP: rs137854455
rs137854455
ELN
T 0.700 CausalMutation CLINVAR

dbSNP: rs1400530335
rs1400530335
ELN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554666513
rs1554666513
ELN
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554669297
rs1554669297
ELN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554669800
rs1554669800
ELN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554672587
rs1554672587
ELN
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554676454
rs1554676454
ELN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554686162
rs1554686162
ELN ; ELN-AS1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1563826213
rs1563826213
ELN
T 0.700 CausalMutation CLINVAR

dbSNP: rs1563836689
rs1563836689
ELN
T 0.700 CausalMutation CLINVAR

dbSNP: rs727503022
rs727503022
ELN
TC 0.700 CausalMutation CLINVAR