rs3218716, MYH7

N. diseases: 17
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)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
163 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.800 1.000 32 1975 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.710 1.000 11 1995 2016
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 1.000 10 1999 2014
Abnormality of cellular immune system
CUI: C4023612
Disease: Abnormality of cellular immune system
3 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
Abnormality of T cell physiology
CUI: C4023166
Disease: Abnormality of T cell physiology
3 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
CARDIOMYOPATHY, DILATED, 1S
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
53 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
Combined immunodeficiency
CUI: C0494261
Disease: Combined immunodeficiency
11 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
49 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
Distal Myopathy 1
CUI: C4552004
Disease: Distal Myopathy 1
36 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
Familial dilated cardiomyopathy
CUI: C0340427
Disease: Familial dilated cardiomyopathy
47 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
31 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
Lymphopenia
CUI: C0024312
Disease: Lymphopenia
16 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
Myopathy, Hyaline Body, Autosomal Recessive
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
11 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
MYOPATHY, MYOSIN STORAGE (disorder)
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
15 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
Wolff-Parkinson-White Syndrome
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
22 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
X-Linked Emery-Dreifuss Muscular Dystrophy
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
33 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0