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: rs1057517711
rs1057517711
CACNA1C
1.000 0.080 12 2566466 missense variant G/A snv 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs747656642
rs747656642
CALR3
1.000 0.080 19 16484044 frameshift variant A/- del 7.6E-05 1.2E-04
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs121909280
rs121909280
CAV3 ; SSUH2
1.000 0.080 3 8745602 missense variant C/G snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 6 2004 2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 24 1990 2015
dbSNP: rs375882485
rs375882485
MYBPC3
0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 16 2003 2017
dbSNP: rs397515963
rs397515963
MYBPC3
0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 10 1998 2015
dbSNP: rs397515905
rs397515905
MYBPC3
0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 8 2008 2015
dbSNP: rs397515992
rs397515992
MYBPC3
0.882 0.080 11 47335042 stop gained G/A snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 4 1998 2011
dbSNP: rs190228518
rs190228518
MYBPC3
1.000 0.080 11 47343070 stop gained G/A;T snv 4.9E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs397515970
rs397515970
MYBPC3
0.925 0.080 11 47337468 frameshift variant -/A delins
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs730880649
rs730880649
MYBPC3
1.000 0.080 11 47341196 frameshift variant -/T delins
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs863225271
rs863225271
MYBPC3
1.000 0.080 11 47342928 frameshift variant A/- del
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs863225272
rs863225272
MYBPC3
1.000 0.080 11 47332173 frameshift variant AG/- delins
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs863225269
rs863225269
MYH6
1.000 0.080 14 23392969 frameshift variant -/G delins
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 7 2006 2013
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: rs36211715
rs36211715
MYH7
0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 39 1992 2017
dbSNP: rs371898076
rs371898076
MYH7
0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 39 1992 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: rs397516209
rs397516209
MYH7
0.882 0.080 14 23432713 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 36 1992 2017
dbSNP: rs121913630
rs121913630
MYH7
0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 35 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