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: 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: rs121913651
rs121913651
MYH7
0.925 0.080 14 23428631 missense variant C/T snv 4.0E-06 7.0E-06
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: rs397516157
rs397516157
MYH7
0.882 0.080 14 23424893 missense variant A/C;G;T snv 4.0E-06
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: rs145677314
rs145677314
MYH7
1.000 0.080 14 23425346 missense variant G/A snv 5.6E-05 8.4E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 23 1992 2014
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: rs121913632
rs121913632
MYH7
0.882 0.080 14 23425760 missense variant C/A;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 22 1993 2017
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: rs121913630
rs121913630
MYH7
0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.740 1.000 21 1992 2020
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: rs121913644
rs121913644
MYH7
1.000 0.080 14 23425798 missense variant G/A snv 1.6E-04 9.1E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs2069544
rs2069544
MYH7
0.882 0.080 14 23425371 missense variant G/A;C;T snv 2.9E-04
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs267606911
rs267606911
MYH7
0.882 0.080 14 23428587 missense variant C/A snv 8.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 20 1992 2005
dbSNP: rs3218715
rs3218715
MYH7
1.000 0.080 14 23428583 missense variant C/T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs397516088
rs397516088
MYH7
0.882 0.080 14 23429850 missense variant C/G;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs397516095
rs397516095
MYH7
0.925 0.080 14 23429266 missense variant C/A snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs397516097
rs397516097
MYH7
0.925 0.080 14 23429089 missense variant C/T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs397516127
rs397516127
MYH7
0.763 0.160 14 23426834 missense variant G/A;C snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 20 1992 2005