rs267606908, MYH7

N. diseases: 9
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 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.800 1.000 27 1992 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 7 2002 2014
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 6 2002 2017
CARDIOMYOPATHY, DILATED, 1S
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
53 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
49 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
Distal Myopathy 1
CUI: C4552004
Disease: Distal Myopathy 1
36 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
Myopathy, Hyaline Body, Autosomal Recessive
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
11 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
MYOPATHY, MYOSIN STORAGE (disorder)
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
15 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
X-Linked Emery-Dreifuss Muscular Dystrophy
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
33 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0