rs61368398, 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 219421380 missense variant G/A;C;T snv 3.2E-05 0.800 1.000 2 2011 2014
Disorder of skeletal muscle
CUI: C1533847
Disease: Disorder of skeletal muscle
10 1.000 0.160 2 219421380 missense variant G/A;C;T snv 3.2E-05 0.010 1.000 1 2005 2005