Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338766
rs80338766
FBLN5
0.800 GeneticVariation UNIPROT Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. 20007835

2010
dbSNP: rs80338766
rs80338766
FBLN5
0.800 GeneticVariation UNIPROT Biophysical characterisation of fibulin-5 proteins associated with disease. 20599547

2010
dbSNP: rs80338766
rs80338766
FBLN5
0.800 GeneticVariation UNIPROT A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. 18185537

2008
dbSNP: rs80338766
rs80338766
FBLN5
0.800 GeneticVariation UNIPROT Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 17035250

2006
dbSNP: rs80338766
rs80338766
FBLN5
0.800 GeneticVariation UNIPROT Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. 16691202

2006
dbSNP: rs80338766
rs80338766
FBLN5
0.800 GeneticVariation UNIPROT Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. 16652333

2006
dbSNP: rs80338766
rs80338766
FBLN5
0.800 GeneticVariation UNIPROT Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 12189163

2002
dbSNP: rs80338766
rs80338766
FBLN5
G 0.800 CausalMutation CLINVAR

dbSNP: rs149396611
rs149396611
FBLN5
0.700 GeneticVariation UNIPROT Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. 20007835

2010
dbSNP: rs149396611
rs149396611
FBLN5
0.700 GeneticVariation UNIPROT Biophysical characterisation of fibulin-5 proteins associated with disease. 20599547

2010
dbSNP: rs149396611
rs149396611
FBLN5
0.700 GeneticVariation UNIPROT A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. 18185537

2008
dbSNP: rs149396611
rs149396611
FBLN5
0.700 GeneticVariation UNIPROT Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. 16691202

2006
dbSNP: rs149396611
rs149396611
FBLN5
0.700 GeneticVariation UNIPROT Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. 16652333

2006
dbSNP: rs149396611
rs149396611
FBLN5
0.700 GeneticVariation UNIPROT Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 17035250

2006
dbSNP: rs149396611
rs149396611
FBLN5
0.700 GeneticVariation UNIPROT Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 12189163

2002
dbSNP: rs28939370
rs28939370
FBLN5
G 0.700 CausalMutation CLINVAR

dbSNP: rs80338765
rs80338765
FBLN5
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338767
rs80338767
FBLN5
A 0.700 CausalMutation CLINVAR