rs1230578718, COL6A3

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.
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
108 1.000 0.120 2 237380914 splice donor variant C/A snv 7.0E-06 0.700 1.000 3 2005 2010