rs267607486, DES

N. diseases: 3
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 219420346 missense variant G/A;C snv 0.710 1.000 21 1998 2017
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 1.000 0.160 2 219420346 missense variant G/A;C snv 0.010 1.000 1 2009 2009
Myopathy
CUI: C0026848
Disease: Myopathy
166 1.000 0.160 2 219420346 missense variant G/A;C snv 0.010 1.000 1 2009 2009