rs150168522, COL6A2

N. diseases: 4
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.
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.925 0.160 21 46132367 missense variant G/A;C snv 4.9E-05; 2.9E-05 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.925 0.160 21 46132367 missense variant G/A;C snv 4.9E-05; 2.9E-05 0.700 0
Ullrich congenital muscular dystrophy 1
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
34 0.925 0.160 21 46132367 missense variant G/A;C snv 4.9E-05; 2.9E-05 0.700 0
Waddling gait
CUI: C0231712
Disease: Waddling gait
8 0.925 0.160 21 46132367 missense variant G/A;C snv 4.9E-05; 2.9E-05 0.700 0