rs138049878, MYH7

N. diseases: 2
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, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.925 0.080 14 23424840 missense variant G/A snv 2.4E-05 7.0E-06 0.700 1.000 16 1995 2018
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.925 0.080 14 23424840 missense variant G/A snv 2.4E-05 7.0E-06 0.700 1.000 8 2000 2017