rs797044988, COL6A3

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.
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
108 0.882 0.160 2 237359390 splice acceptor variant T/G snv 0.700 0
Congenital muscular dystrophy (disorder)
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
20 0.882 0.160 2 237359390 splice acceptor variant T/G snv 0.700 0
Ullrich congenital muscular dystrophy 1
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
34 0.882 0.160 2 237359390 splice acceptor variant T/G snv 0.700 0