rs35049558, MYL2

N. diseases: 8
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 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.040 1.000 4 2019 2019
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.030 1.000 3 2019 2019
Apical hypertrophic cardiomyopathy
CUI: C4732796
Disease: Apical hypertrophic cardiomyopathy
3 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 1.000 1 2019 2019
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 1.000 1 2019 2019
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 1 2019 2019
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 1.000 1 2019 2019
Paresis
CUI: C0030552
Disease: Paresis
49 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 1 2019 2019
Septal hypertrophy
CUI: C0442887
Disease: Septal hypertrophy
11 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 1.000 1 2002 2002