rs121913637, MYH7

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.
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
163 0.882 0.080 14 23425971 missense variant G/A snv 7.0E-06 0.800 1.000 50 1992 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.882 0.080 14 23425971 missense variant G/A snv 7.0E-06 0.720 1.000 30 1994 2018
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.882 0.080 14 23425971 missense variant G/A snv 7.0E-06 0.700 1.000 10 1994 2017