Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854461
rs137854461
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.820 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs137854461
rs137854461
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.820 CausalMutation CLINVAR Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. 16220557

2005
dbSNP: rs137854461
rs137854461
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.820 CausalMutation CLINVAR Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084

2003
dbSNP: rs137854461
rs137854461
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.820 CausalMutation CLINVAR An MFS-causing mutation, N2144S, which removes a calcium ligand in cbEGF32, does not detectably affect fibrillin-1 biosynthesis, rate of secretion, processing, or deposition of reducible fibrillin-1 into the ECM. 11829507

2002
dbSNP: rs137854461
rs137854461
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.820 CausalMutation CLINVAR A mutation causing an Asn-2144 --> Ser amino acid change in one of the potential calcium binding residues has been described in a patient with the Marfan syndrome. 7896820

1995
dbSNP: rs137854461
rs137854461
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.820 CausalMutation CLINVAR A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module. 8504310

1993
dbSNP: rs137854461
rs137854461
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.820 GeneticVariation CLINVAR