Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140598
rs140598
0.030 GeneticVariation BEFREE The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? 9150726

1997

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation BEFREE We have also investigated the effect of defective calcium binding to cbEGF32 on fibrillin-1 produced by N2144S MFS fibroblasts. 9887276

1999

dbSNP: rs747713929
rs747713929
0.010 GeneticVariation BEFREE Here we report the first mutation (G2950A) in exon 24 of the neonatal region of the FBN1 gene, associated with a classic MfS phenotype. 10694921

1998

dbSNP: rs137854462
rs137854462
0.810 GeneticVariation BEFREE Here, we describe as a model system structural and functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I, E1073K), resulting in the Marfan syndrome. 10766875

2000

dbSNP: rs137854478
rs137854478
0.810 GeneticVariation BEFREE Here, we describe as a model system structural and functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I, E1073K), resulting in the Marfan syndrome. 10766875

2000

dbSNP: rs113422242
rs113422242
0.710 GeneticVariation BEFREE Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII. 10874320

2000

dbSNP: rs397515812
rs397515812
0.710 GeneticVariation BEFREE Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII. 10874320

2000

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation BEFREE In this study we have used three proteases to probe structural changes caused by an N2144S MFS calcium binding mutation in a TB6-cbEGF32 and a cbEGF32-33 domain pair, and an N2183S mutation in the cbEGF32-33 pair. 10942427

2000

dbSNP: rs113393517
rs113393517
0.710 GeneticVariation BEFREE A mutation affecting a residue of the calcium-binding consensus sequence (K1300E) found in a patient with relatively mild clinical manifestations of classic MFS caused a modest increase in susceptibility to in vitro proteolysis by trypsin, whereas a mutation affecting the sixth cysteine residue of the same cbEGF module (C1320S) reported in a severely affected patient caused a dramatic increase in susceptibility to in vitro proteolysis by trypsin. 11071382

2000

dbSNP: rs137854468
rs137854468
0.810 GeneticVariation BEFREE A missense mutation that changes a highly conserved glycine to serine (G1127S) has been identified in cbEGF13, which results in a variant of Marfan syndrome, a connective tissue disease. 11278305

2001

dbSNP: rs140598
rs140598
0.030 GeneticVariation BEFREE In this paper we analysed 10 British patients affected by MFS and we were able to characterise five novel missense mutations (C474W, C1402Y, G1987R, C2153Y, G2536R), one novel frameshift mutation (7926delC), one already described mutation (P1424A) and one FBN1 variant (P1148A) classified as a polymorphism in the Asian population. 11524736

2001

dbSNP: rs140598
rs140598
0.030 GeneticVariation BEFREE In this paper we analysed 10 British patients affected by MFS and we were able to characterise five novel missense mutations (C474W, C1402Y, G1987R, C2153Y, G2536R), one novel frameshift mutation (7926delC), one already described mutation (P1424A) and one FBN1 variant (P1148A) classified as a polymorphism in the Asian population. 11748851

2001

dbSNP: rs61746008
rs61746008
0.030 GeneticVariation BEFREE The R2726W mutation in the fibrillin 1 (FBN1, Marfan syndrome) gene segregates with isolated skeletal features of Marfan syndrome and/or high stature. 15598221

2004

dbSNP: rs8033037
rs8033037
0.010 GeneticVariation BEFREE One of the SNPs, rs8033037, in exon 15 showed a significant correlation (P = 0.0061) with the adult height, suggesting that FBN1 is one of the 'stature genes' of normal individuals. 17024364

2007

dbSNP: rs137854484
rs137854484
0.010 GeneticVariation BEFREE In conclusion, the p.Cys1086Tyr mutation in FBN1 is consistently associated with neonatal MFS. 17366579

2007

dbSNP: rs137854485
rs137854485
0.020 GeneticVariation BEFREE Here, we report on two cousins from a consanguineous family with a homozygous c.1,453C>T FBN1 mutation (p.Arg485Cys) and MFS. 17568394

2007

dbSNP: rs137854467
rs137854467
0.810 GeneticVariation BEFREE Correlation of the recurrent FBN1 mutation (c.364C>T) with a unique phenotype in a Chinese patient with Marfan syndrome. 19089573

2009

dbSNP: rs61746008
rs61746008
0.030 GeneticVariation BEFREE Primary protrusio acetabuli may represent a hitherto unidentified metabolic defect, and a possible candidate for such genetic influence is the R2726W variant of the fibrillin 1 (FBN1) gene, which segregates with isolated skeletal features of individuals with Marfan syndrome. 19396033

2009

dbSNP: rs794728249
rs794728249
0.710 GeneticVariation BEFREE In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c.6418G>A (p.Gly2140Arg) and c.6419G>A (p.Gly2140Glu). 19802897

2010

dbSNP: rs1064793118
rs1064793118
0.010 GeneticVariation BEFREE In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c.6418G>A (p.Gly2140Arg) and c.6419G>A (p.Gly2140Glu). 19802897

2010

dbSNP: rs1085307528
rs1085307528
0.010 GeneticVariation BEFREE In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c.6418G>A (p.Gly2140Arg) and c.6419G>A (p.Gly2140Glu). 19802897

2010

dbSNP: rs1057520131
rs1057520131
0.010 GeneticVariation BEFREE A C596G mutation in FBN1 was identified in a Chinese family with MFS. 25729264

2015

dbSNP: rs61746008
rs61746008
0.030 GeneticVariation BEFREE The presented cases confirm that the R2726W FBN1 variant is associated with skeletal features of MFS in the absence of cardiac or ocular findings. 26875674

2016

dbSNP: rs193922185
rs193922185
0.710 GeneticVariation BEFREE Individuals with p.R650C predominantly have EL, but do have risk for aortic dilation at ages later than typical for Marfan syndrome in general and for cysteine changes specifically. 28941062

2017

dbSNP: rs137854485
rs137854485
0.020 GeneticVariation BEFREE In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms. 30485715

2019