rs398122940, DES

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.
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
48 1.000 0.160 2 219425661 splice acceptor variant A/G snv 0.700 0