rs267606747, COL6A2

N. diseases: 2
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 0.925 0.160 21 46126144 missense variant T/C snv 4.0E-06 0.800 1.000 1 2010 2010
Ullrich congenital muscular dystrophy 1
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
34 0.925 0.160 21 46126144 missense variant T/C snv 4.0E-06 0.700 0