Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113422242
rs113422242
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 GeneticVariation BEFREE Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII. 10874320

2000
dbSNP: rs113422242
rs113422242
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.710 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C1262477
Disease: Weight decreased
Weight decreased 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C0027092
Disease: Myopia
Myopia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		A 0.700 CausalMutation CLINVAR