rs61130669, 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 0.925 0.160 2 219421511 missense variant G/T snv 0.800 1.000 1 2014 2014
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
24 0.925 0.160 2 219421511 missense variant G/T snv 0.020 1.000 2 2013 2017