rs121913654, MYH7;MHRT

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, MYOSIN STORAGE (disorder)
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
15 0.882 0.160 14 23415176 missense variant A/G snv 0.810 1.000 5 2003 2009
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
163 0.882 0.160 14 23415176 missense variant A/G snv 0.700 0
LEFT VENTRICULAR NONCOMPACTION 5
CUI: C3150690
Disease: LEFT VENTRICULAR NONCOMPACTION 5
6 0.882 0.160 14 23415176 missense variant A/G snv 0.700 0