rs1057519321, FBN2

N. diseases: 7
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.
Abnormality of connective tissue
CUI: C4025596
Disease: Abnormality of connective tissue
3 0.807 0.160 5 128349391 missense variant C/A;T snv 0.700 0
Congenital contractural arachnodactyly
CUI: C0220668
Disease: Congenital contractural arachnodactyly
48 0.807 0.160 5 128349391 missense variant C/A;T snv 0.700 0
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.807 0.160 5 128349391 missense variant C/A;T snv 0.700 0
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 0.807 0.160 5 128349391 missense variant C/A;T snv 0.010 1.000 1 2018 2018
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.807 0.160 5 128349391 missense variant C/A;T snv 0.010 1.000 1 2018 2018
Dysmorphism
CUI: C1737329
Disease: Dysmorphism
16 0.807 0.160 5 128349391 missense variant C/A;T snv 0.010 1.000 1 2018 2018
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.807 0.160 5 128349391 missense variant C/A;T snv 0.010 1.000 1 2018 2018