rs58898021, 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 0.925 0.160 2 219421385 missense variant G/C snv 0.700 1.000 21 1998 2017
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
24 0.925 0.160 2 219421385 missense variant G/C snv 0.700 0
Stuttering
CUI: C0038506
Disease: Stuttering
8 0.925 0.160 2 219421385 missense variant G/C snv 0.010 1.000 1 2003 2003