Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs987202268
rs987202268
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886051245
rs886051245
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886043709
rs886043709
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		GCA 0.700 CausalMutation CLINVAR

dbSNP: rs886041536
rs886041536
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs886041482
rs886041482
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 GeneticVariation CLINVAR Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. 19293843

2009
dbSNP: rs886041482
rs886041482
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 GeneticVariation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs886041349
rs886041349
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs886039158
rs886039158
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886039072
rs886039072
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs886039072
rs886039072
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 GeneticVariation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006
dbSNP: rs886039072
rs886039072
FBN1 ; LOC105370809
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 GeneticVariation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973
dbSNP: rs886039066
rs886039066
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. 19349279

2009
dbSNP: rs886039066
rs886039066
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs886039066
rs886039066
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
dbSNP: rs886039066
rs886039066
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. 16905551

2006
dbSNP: rs886039036
rs886039036
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886038976
rs886038976
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886038949
rs886038949
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006
dbSNP: rs886038949
rs886038949
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973
dbSNP: rs886038949
rs886038949
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR The solution structure of human epidermal growth factor. 3495735

1987
dbSNP: rs886038949
rs886038949
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886038949
rs886038949
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319

1999
dbSNP: rs886038949
rs886038949
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome. 24161884

2014
dbSNP: rs886038949
rs886038949
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
dbSNP: rs886038949
rs886038949
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006