rs139794067, MYL3

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.
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.925 0.080 3 46860813 missense variant G/A;C;T snv 7.2E-05; 1.7E-04 0.710 1 2018 2018
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
8 0.925 0.080 3 46860813 missense variant G/A;C;T snv 7.2E-05; 1.7E-04 0.700 0
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
45 0.925 0.080 3 46860813 missense variant G/A;C;T snv 7.2E-05; 1.7E-04 0.010 1.000 1 2018 2018