rs767517186, COL6A3

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 0.120 2 237334890 splice acceptor variant C/G snv 1.6E-05 4.2E-05 0.700 1.000 1 2015 2015
DYSTONIA 27
CUI: C4225336
Disease: DYSTONIA 27
7 0.925 0.120 2 237334890 splice acceptor variant C/G snv 1.6E-05 4.2E-05 0.700 0