rs121913630, MYH7

N. diseases: 7
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)
163 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.800 1.000 35 1992 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.740 1.000 21 1992 2020
Cardiomyopathy, Hypertrophic, Familial
355 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.710 1.000 13 1992 2018
Hypertrophic obstructive cardiomyopathy
90 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.030 1.000 3 2006 2020
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2010 2010
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2010 2010
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2010 2010