Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555395001
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 6 1973 2007
dbSNP: rs1555395001
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 6 1973 2007
dbSNP: rs1555395001
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv
CUI: C4313505
Disease: Bilateral hallux valgus
Bilateral hallux valgus 		0.700 0
dbSNP: rs1555395001
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.700 0
dbSNP: rs1555395001
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.700 0
dbSNP: rs1555395001
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 0
dbSNP: rs1555395001
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0
dbSNP: rs1555395001
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0