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: 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: rs36211715
rs36211715
MYH7
0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.720 1.000 16 1995 2017
dbSNP: rs36211715
rs36211715
MYH7
0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.710 1.000 16 1995 2017
dbSNP: rs36211715
rs36211715
MYH7
0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06
CUI: C0008031
Disease: Chest Pain
Chest Pain 		0.700 0
dbSNP: rs36211715
rs36211715
MYH7
0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 1.000 1 2011 2011