rs1085308004, FBN1

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
15 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0