rs1057518925, 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.
Fatigue
CUI: C0015672
Disease: Fatigue
67 1.000 0.120 21 46114006 splice acceptor variant A/G snv 0.700 0
Hyperextensible hand joints
CUI: C1856877
Disease: Hyperextensible hand joints
3 1.000 0.120 21 46114006 splice acceptor variant A/G snv 0.700 0
Limb-girdle muscle weakness
CUI: C1858127
Disease: Limb-girdle muscle weakness
3 1.000 0.120 21 46114006 splice acceptor variant A/G snv 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 1.000 0.120 21 46114006 splice acceptor variant A/G snv 0.700 0