Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517771
rs1057517771
MYH7
1.000 0.080 14 23432656 missense variant T/C snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs1057517772
rs1057517772
MYH7
1.000 0.080 14 23431839 missense variant G/A;C snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs1060501439
rs1060501439
MYH7
0.925 0.080 14 23424938 missense variant T/A snv
CUI: C4476545
Disease: Dilatation of the ventricular cavity
Dilatation of the ventricular cavity 		0.700 0
dbSNP: rs1060501439
rs1060501439
MYH7
0.925 0.080 14 23424938 missense variant T/A snv
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.700 0
dbSNP: rs1060501439
rs1060501439
MYH7
0.925 0.080 14 23424938 missense variant T/A snv
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.700 0
dbSNP: rs1060501439
rs1060501439
MYH7
0.925 0.080 14 23424938 missense variant T/A snv
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		0.700 0
dbSNP: rs1060501452
rs1060501452
MYH7
1.000 0.040 14 23429304 missense variant G/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1060505018
rs1060505018
MYH7
1.000 0.080 14 23424817 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs1114167322
rs1114167322
MYH7 ; MHRT
1.000 0.040 14 23415164 missense variant A/G snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0
dbSNP: rs121913628
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.700 0
dbSNP: rs121913628
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs121913628
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs121913628
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0
dbSNP: rs121913628
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.700 0
dbSNP: rs121913628
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.700 0
dbSNP: rs121913628
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Hyaline Body, Autosomal Recessive 		0.700 0
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs121913648
rs121913648
MYH7 ; MHRT
0.925 0.160 14 23416105 inframe deletion TTC/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs121913651
rs121913651
MYH7
0.925 0.080 14 23428631 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs121913654
rs121913654
MYH7 ; MHRT
0.882 0.160 14 23415176 missense variant A/G snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs121913654
rs121913654
MYH7 ; MHRT
0.882 0.160 14 23415176 missense variant A/G snv
CUI: C3150690
Disease: LEFT VENTRICULAR NONCOMPACTION 5
LEFT VENTRICULAR NONCOMPACTION 5 		0.700 0
dbSNP: rs138110910
rs138110910
MYH7 ; MHRT
1.000 14 23413795 synonymous variant G/A;Y snv
CUI: C3150690
Disease: LEFT VENTRICULAR NONCOMPACTION 5
LEFT VENTRICULAR NONCOMPACTION 5 		0.700 0
dbSNP: rs141735183
rs141735183
MYH7
14 23420222 stop gained C/A snv 8.2E-06 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs145213771
rs145213771
MYH7 ; MIR208B ; MHRT
0.925 0.080 14 23417598 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs148808089
rs148808089
MYH7
0.882 0.080 14 23429038 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0