Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503054
rs727503054
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs727503054
rs727503054
FBN1
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs727503054
rs727503054
FBN1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		G 0.700 CausalMutation CLINVAR

dbSNP: rs727503054
rs727503054
FBN1
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		G 0.700 CausalMutation CLINVAR

dbSNP: rs727503054
rs727503054
FBN1
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs727503054
rs727503054
FBN1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		G 0.700 CausalMutation CLINVAR

dbSNP: rs727503054
rs727503054
FBN1
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs727503054
rs727503054
FBN1
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		G 0.700 CausalMutation CLINVAR

dbSNP: rs727503054
rs727503054
FBN1
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs727503054
rs727503054
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs727503054
rs727503054
FBN1
CUI: C0271183
Disease: Severe myopia
Severe myopia 		G 0.700 CausalMutation CLINVAR