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: rs1555398673
rs1555398673
FBN1
0.807 0.200 15 48488433 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 2 1996 2011
dbSNP: rs1555398673
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 2 1996 2011
dbSNP: rs1555398673
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0
dbSNP: rs1555398673
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1555398673
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0
dbSNP: rs1555398673
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0
dbSNP: rs1555398673
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0