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: 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: rs397516484
rs397516484
TNNT2
0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 8 1997 2015
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: rs730880918
rs730880918
MYH7 ; MHRT
1.000 0.080 14 23413763 missense variant G/A snv 2.4E-05 9.8E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 3 2003 2014
dbSNP: rs121913652
rs121913652
MYH7 ; MHRT
0.882 0.080 14 23414015 missense variant C/T snv 7.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs372381770
rs372381770
MYH7 ; MHRT
0.925 0.080 14 23414101 missense variant G/A snv 2.4E-05 2.1E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 23 1992 2014
dbSNP: rs369940645
rs369940645
MYH7 ; MHRT
1.000 0.080 14 23415132 missense variant C/T snv 3.6E-05 2.1E-05
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: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs200939753
rs200939753
MYH7 ; MHRT
1.000 0.080 14 23415225 missense variant C/T snv 6.8E-05 9.1E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs369437262
rs369437262
MYH7 ; MHRT
1.000 0.080 14 23415228 missense variant T/C snv 3.2E-05 6.3E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 27 1992 2017
dbSNP: rs397516241
rs397516241
MYH7 ; MHRT
1.000 0.080 14 23415252 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: rs545585809
rs545585809
MYH7 ; MHRT
1.000 0.080 14 23415407 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs730880916
rs730880916
MYH7 ; MHRT
1.000 0.080 14 23415410 missense variant C/T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		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: 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
dbSNP: rs763538103
rs763538103
MYH7 ; MHRT
1.000 0.080 14 23415794 missense variant G/A;T snv 4.0E-06; 1.2E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs373514686
rs373514686
MYH7 ; MHRT
1.000 0.080 14 23416140 missense variant C/T snv 4.0E-05 1.4E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs767148171
rs767148171
MYH7 ; MHRT
1.000 0.080 14 23416941 missense variant T/C;G snv 4.0E-06; 8.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs397516222
rs397516222
MYH7 ; MHRT
1.000 0.080 14 23416975 missense variant T/A snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs201307101
rs201307101
MYH7 ; MHRT
0.925 0.080 14 23417295 missense variant C/A;G;T snv 3.0E-04; 4.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
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: rs201895208
rs201895208
MYH7 ; MIR208B ; MHRT
1.000 0.080 14 23417616 missense variant G/T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 20 1992 2005
dbSNP: rs730880910
rs730880910
MYH7 ; MIR208B
1.000 0.080 14 23418235 missense variant G/A;T snv 4.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
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: rs397516201
rs397516201
MYH7 ; MIR208B
0.882 0.080 14 23418249 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 23 1992 2014