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: rs121913624
rs121913624
MYH7
0.851 0.080 14 23429278 missense variant C/A;G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 76 1961 2017
dbSNP: rs121913637
rs121913637
MYH7
0.882 0.080 14 23425971 missense variant G/A snv 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 50 1992 2017
dbSNP: rs3218713
rs3218713
MYH7
0.763 0.160 14 23431468 missense variant C/A;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 42 1991 2017
dbSNP: rs121913631
rs121913631
MYH7
0.882 0.080 14 23424107 missense variant G/C snv 1.4E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 37 1992 2017
dbSNP: rs121913641
rs121913641
MYH7
0.882 0.080 14 23425970 missense variant C/G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 35 1992 2017
dbSNP: rs121913625
rs121913625
MYH7
0.851 0.080 14 23429005 missense variant G/A;C;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 34 1990 2014
dbSNP: rs121913628
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 34 1992 2017
dbSNP: rs121913632
rs121913632
MYH7
0.882 0.080 14 23425760 missense variant C/A;G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 33 1992 2017
dbSNP: rs3218714
rs3218714
MYH7
0.763 0.160 14 23429279 missense variant G/A;C snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 30 1992 2017
dbSNP: rs397516202
rs397516202
MYH7 ; MIR208B
0.882 0.080 14 23418244 missense variant C/A;T snv 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 28 1992 2017
dbSNP: rs397516212
rs397516212
MYH7
0.925 0.080 14 23432703 missense variant C/A;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 27 1992 2017
dbSNP: rs121913629
rs121913629
MYH7
1.000 0.080 14 23423984 missense variant C/T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 25 1992 2017
dbSNP: rs121913634
rs121913634
MYH7
0.882 0.080 14 23425372 missense variant T/A;C snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 25 1992 2017
dbSNP: rs121913636
rs121913636
MYH7
0.925 0.080 14 23428540 missense variant A/C snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 25 1992 2017
dbSNP: rs121913639
rs121913639
MYH7
1.000 0.080 14 23424026 missense variant C/T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 25 1992 2017
dbSNP: rs397516110
rs397516110
MYH7
1.000 0.080 14 23428546 missense variant A/G snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 25 1992 2017
dbSNP: rs397516171
rs397516171
MYH7
0.763 0.160 14 23424041 missense variant C/G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 25 1992 2017
dbSNP: rs863225097
rs863225097
MYH7
1.000 0.080 14 23425780 missense variant T/G snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 25 1992 2017
dbSNP: rs397516098
rs397516098
MYH7
0.882 0.080 14 23429044 missense variant C/T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 23 1992 2014
dbSNP: rs121913638
rs121913638
MYH7
0.851 0.120 14 23425980 missense variant C/T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 22 1992 2005
dbSNP: rs397516101
rs397516101
MYH7
0.882 0.080 14 23429004 missense variant C/A;G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 21 1992 2005
dbSNP: rs397516130
rs397516130
MYH7
0.882 0.080 14 23426033 missense variant A/G snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 21 1992 2005
dbSNP: rs121913633
rs121913633
MYH7
0.882 0.080 14 23431447 missense variant C/T snv 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 20 1992 2005
dbSNP: rs121913640
rs121913640
MYH7
1.000 0.080 14 23429867 missense variant A/G snv 2.1E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs121913650
rs121913650
MYH7 ; MHRT
0.925 0.080 14 23415652 missense variant G/A snv 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 20 1992 2005