rs606231471, ECEL1

N. diseases: 3
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.
Adducted thumb
CUI: C3554617
Disease: Adducted thumb
5 0.925 0.080 2 232481123 missense variant C/A;T snv 1.1E-05; 1.1E-05 0.700 0
Congenital Camptodactyly
CUI: C0685409
Disease: Congenital Camptodactyly
10 0.925 0.080 2 232481123 missense variant C/A;T snv 1.1E-05; 1.1E-05 0.700 0
Distal arthrogryposis type 5D
CUI: C3554415
Disease: Distal arthrogryposis type 5D
20 0.925 0.080 2 232481123 missense variant C/A;T snv 1.1E-05; 1.1E-05 0.700 0