rs267607499, DES

N. diseases: 4
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 0.851 0.160 2 219418809 missense variant A/G;T snv 0.800 1.000 22 1998 2017
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
136 0.851 0.160 2 219418809 missense variant A/G;T snv 0.010 1.000 1 2010 2010
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
165 0.851 0.160 2 219418809 missense variant A/G;T snv 0.010 1.000 1 2010 2010
Heart failure
CUI: C0018801
Disease: Heart failure
201 0.851 0.160 2 219418809 missense variant A/G;T snv 0.010 1.000 1 2010 2010