Gene: ELN ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878854452
rs878854452
ELN
T 0.700 CausalMutation CLINVAR

dbSNP: rs863223518
rs863223518
ELN
C 0.700 GeneticVariation CLINVAR Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema. 22740173

2012
dbSNP: rs730880355
rs730880355
ELN
GA 0.700 CausalMutation CLINVAR

dbSNP: rs727504581
rs727504581
ELN
T 0.700 CausalMutation CLINVAR

dbSNP: rs727504434
rs727504434
ELN
G 0.700 CausalMutation CLINVAR

dbSNP: rs727504433
rs727504433
ELN
T 0.700 CausalMutation CLINVAR

dbSNP: rs727504419
rs727504419
ELN
C 0.700 CausalMutation CLINVAR

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: rs727503782
rs727503782
ELN ; ELN-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727503035
rs727503035
ELN ; ELN-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs727503034
rs727503034
ELN ; ELN-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727503033
rs727503033
ELN ; ELN-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs727503031
rs727503031
ELN
A 0.700 GeneticVariation CLINVAR

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

1997
dbSNP: rs727503030
rs727503030
ELN
A 0.700 CausalMutation CLINVAR

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

2000
dbSNP: rs727503029
rs727503029
ELN
A 0.700 CausalMutation CLINVAR

dbSNP: rs727503028
rs727503028
ELN
TG 0.700 CausalMutation CLINVAR

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

1997
dbSNP: rs727503026
rs727503026
ELN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs727503024
rs727503024
ELN
T 0.700 CausalMutation CLINVAR

dbSNP: rs727503023
rs727503023
ELN
T 0.700 CausalMutation CLINVAR

dbSNP: rs727503022
rs727503022
ELN
TC 0.700 CausalMutation CLINVAR

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

2007