FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Neonatal Marfan syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854478
rs137854478
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4016054
Disease:
Neonatal Marfan syndrome 		0.710 GeneticVariation BEFREE Our report is the first atypical nMFS case with p.Glu1073Lys mutation of FBN1 in Korea and may help clinicians with the diagnosis and follow-up of atypical nMFS. 27914124 2017
dbSNP: rs137854478
rs137854478
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4016054
Disease:
Neonatal Marfan syndrome 		T 0.710 CausalMutation CLINVAR
dbSNP: rs137854465
rs137854465
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4016054
Disease:
Neonatal Marfan syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137854472
rs137854472
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4016054
Disease:
Neonatal Marfan syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs137854473
rs137854473
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4016054
Disease:
Neonatal Marfan syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137854481
rs137854481
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4016054
Disease:
Neonatal Marfan syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137854484
rs137854484
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4016054
Disease:
Neonatal Marfan syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387906547
rs387906547
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4016054
Disease:
Neonatal Marfan syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906548
rs387906548
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4016054
Disease:
Neonatal Marfan syndrome 		T 0.700 CausalMutation CLINVAR