rs121913647, MHRT;MYH7

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.
Distal Myopathy 1
CUI: C4552004
Disease: Distal Myopathy 1
35 0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 0.800 1.000 0 2004 2007
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
332 0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 7 2004 2013
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
443 0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 0.700 0