Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515802
rs397515802
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. 19863550

2010
dbSNP: rs397515802
rs397515802
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. 19293843

2009
dbSNP: rs397515802
rs397515802
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 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: rs397515802
rs397515802
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006
dbSNP: rs397515802
rs397515802
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs397515802
rs397515802
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. 11175294

2001
dbSNP: rs397515802
rs397515802
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 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: rs397515802
rs397515802
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR The solution structure of human epidermal growth factor. 3495735

1987
dbSNP: rs397515802
rs397515802
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973
dbSNP: rs397515802
rs397515802
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR