Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities. 21895641

2012
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. 19293843

2009
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 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: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. 16222657

2005
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR The solution structure of human epidermal growth factor. 3495735

1987
dbSNP: rs112728248
rs112728248
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973