FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1206843725
rs1206843725
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137852825
rs137852825
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137852826
rs137852826
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137852827
rs137852827
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		G 0.800 CausalMutation CLINVAR
dbSNP: rs137852828
rs137852828
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606802
rs267606802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28931602
rs28931602
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		C 0.800 CausalMutation CLINVAR
dbSNP: rs794727560
rs794727560
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1057519321
rs1057519321
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0024796
Disease:
Marfan Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519321
rs1057519321
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C4025596
Disease:
Abnormality of connective tissue 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519321
rs1057519321
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060503498
rs1060503498
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060503510
rs1060503510
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1060503511
rs1060503511
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs138303817
rs138303817
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs149054177
rs149054177
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C4015286
Disease:
MACULAR DEGENERATION, EARLY-ONSET 		0.700 GeneticVariation UNIPROT
dbSNP: rs1554122802
rs1554122802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0409354
Disease:
Flexion contracture of hip 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554122802
rs1554122802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C1843300
Disease:
Sparse eyelashes 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554122802
rs1554122802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0409338
Disease:
Flexion contracture - elbow 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554122802
rs1554122802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C1860247
Disease:
Prominent glabella 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554122802
rs1554122802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0003706
Disease:
Arachnodactyly 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554122802
rs1554122802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0423224
Disease:
Sunken eyes 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554122802
rs1554122802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0749379
Disease:
Thoracolumbar scoliosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554122802
rs1554122802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0409345
Disease:
Flexion contracture - wrist 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554122802
rs1554122802
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C4024166
Disease:
Crumpled ear 		T 0.700 GeneticVariation CLINVAR