rs57639980, DES

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.
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
48 1.000 0.160 2 219421350 missense variant T/C snv 0.800 1.000 21 1998 2017
Myopathy
CUI: C0026848
Disease: Myopathy
166 1.000 0.160 2 219421350 missense variant T/C snv 0.020 1.000 2 1999 2002