Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515771
rs397515771
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 GeneticVariation CLINVAR The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). 24793577

2014
dbSNP: rs397515771
rs397515771
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: rs397515771
rs397515771
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 GeneticVariation CLINVAR FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 18435798

2008
dbSNP: rs397515771
rs397515771
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 GeneticVariation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931

2006
dbSNP: rs397515771
rs397515771
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 GeneticVariation CLINVAR Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification. 17027361

2006
dbSNP: rs397515771
rs397515771
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 GeneticVariation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319

1999
dbSNP: rs397515771
rs397515771
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 GeneticVariation CLINVAR Marfan Database (third edition): new mutations and new routines for the software. 9399842

1998