rs397516254, MYH7;MHRT

N. diseases: 3
Source: CLINVAR ×
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.
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
443 0.925 0.160 14 23413809 missense variant C/T snv 0.700 1.000 4 2012 2017
CARDIOMYOPATHY, DILATED, 1S
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
41 0.925 0.160 14 23413809 missense variant C/T snv 0.700 0
Distal Myopathy 1
CUI: C4552004
Disease: Distal Myopathy 1
35 0.925 0.160 14 23413809 missense variant C/T snv 0.700 0