Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs363853
rs363853
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.800 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs363853
rs363853
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.800 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs363853
rs363853
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.800 GeneticVariation CLINVAR FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 18435798

2008
dbSNP: rs363853
rs363853
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.800 GeneticVariation 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: rs363853
rs363853
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.800 GeneticVariation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319

1999