Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113871094
rs113871094
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. 21907952

2011
dbSNP: rs113871094
rs113871094
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. 21907952

2011
dbSNP: rs113871094
rs113871094
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. 19618372

2009
dbSNP: rs113871094
rs113871094
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. 19618372

2009
dbSNP: rs113871094
rs113871094
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. 17718856

2007
dbSNP: rs113871094
rs113871094
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. 17718856

2007
dbSNP: rs113871094
rs113871094
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084

2003
dbSNP: rs113871094
rs113871094
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084

2003
dbSNP: rs113871094
rs113871094
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157

2001
dbSNP: rs113871094
rs113871094
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157

2001
dbSNP: rs113871094
rs113871094
FBN1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C1865014
Disease: Long philtrum
Long philtrum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C0575802
Disease: Small hand
Small hand 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C1857482
Disease: Slender finger
Slender finger 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C0086437
Disease: Joint laxity
Joint laxity 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		A 0.700 CausalMutation CLINVAR