Source: CLINVAR

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: rs1555337916
rs1555337916
MYH7
1.000 0.040 14 23426012 missense variant C/T snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0
dbSNP: rs1555338080
rs1555338080
MYH7
14 23427274 missense variant C/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1566521710
rs1566521710
MYH7 ; MHRT
1.000 0.120 14 23414104 splice acceptor variant T/G snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs1566530698
rs1566530698
MYH7
1.000 0.080 14 23424058 missense variant T/C snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs1566531421
rs1566531421
MYH7
1.000 0.040 14 23424872 missense variant A/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1566535410
rs1566535410
MYH7
0.851 0.080 14 23429297 missense variant T/C snv
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		0.700 0
dbSNP: rs1566535410
rs1566535410
MYH7
0.851 0.080 14 23429297 missense variant T/C snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs1566535410
rs1566535410
MYH7
0.851 0.080 14 23429297 missense variant T/C snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0
dbSNP: rs1566535410
rs1566535410
MYH7
0.851 0.080 14 23429297 missense variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1566535410
rs1566535410
MYH7
0.851 0.080 14 23429297 missense variant T/C snv
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		0.700 0
dbSNP: rs1566536418
rs1566536418
MYH7
1.000 0.040 14 23430600 missense variant A/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1566536436
rs1566536436
MYH7
1.000 0.040 14 23430607 missense variant T/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs193922390
rs193922390
MYH7 ; MHRT
0.882 0.080 14 23415651 missense variant C/G;T snv 4.0E-06; 2.0E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs202141173
rs202141173
MYH7
0.882 0.080 14 23424842 missense variant C/T snv 2.4E-05 9.1E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 0
dbSNP: rs2069544
rs2069544
MYH7
0.882 0.080 14 23425371 missense variant G/A;C;T snv 2.9E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs267606908
rs267606908
MYH7
0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.700 0
dbSNP: rs267606908
rs267606908
MYH7
0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.700 0
dbSNP: rs267606908
rs267606908
MYH7
0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.700 0
dbSNP: rs267606908
rs267606908
MYH7
0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs267606908
rs267606908
MYH7
0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Hyaline Body, Autosomal Recessive 		0.700 0
dbSNP: rs267606908
rs267606908
MYH7
0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0
dbSNP: rs267606909
rs267606909
MYH7 ; MHRT
1.000 14 23415258 missense variant C/A;T snv 4.0E-06
CUI: C3150690
Disease: LEFT VENTRICULAR NONCOMPACTION 5
LEFT VENTRICULAR NONCOMPACTION 5 		0.700 0
dbSNP: rs267606910
rs267606910
MYH7
0.807 0.080 14 23431589 missense variant C/T snv 8.0E-06
CUI: C3150690
Disease: LEFT VENTRICULAR NONCOMPACTION 5
LEFT VENTRICULAR NONCOMPACTION 5 		0.700 0
dbSNP: rs267606910
rs267606910
MYH7
0.807 0.080 14 23431589 missense variant C/T snv 8.0E-06
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		0.700 0
dbSNP: rs2754158
rs2754158
MYH7
0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0