rs1470699812, FLNB

N. diseases: 5
Source: CURATED ×
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.
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
35 0.925 0.120 3 58143562 inframe deletion AGG/- delins 8.0E-06 0.700 0
Congenital dislocation of knee
CUI: C0265669
Disease: Congenital dislocation of knee
1 0.925 0.120 3 58143562 inframe deletion AGG/- delins 8.0E-06 0.700 0
Limited knee flexion/extension
CUI: C1968606
Disease: Limited knee flexion/extension
4 0.925 0.120 3 58143562 inframe deletion AGG/- delins 8.0E-06 0.700 0
Patella aplasia-hypoplasia
CUI: C1868577
Disease: Patella aplasia-hypoplasia
1 0.925 0.120 3 58143562 inframe deletion AGG/- delins 8.0E-06 0.700 0
Patellar hypoplasia
CUI: C1840068
Disease: Patellar hypoplasia
1 0.925 0.120 3 58143562 inframe deletion AGG/- delins 8.0E-06 0.700 0