rs387906608, COL6A2

N. diseases: 1
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.
Ullrich congenital muscular dystrophy 1
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
34 1.000 0.160 21 46132118 missense variant C/A;G;T snv 5.2E-06; 2.1E-05 0.810 1.000 4 2005 2010