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: rs193922390
rs193922390
MYH7 ; MHRT
0.882 0.080 14 23415651 missense variant C/G;T snv 4.0E-06; 2.0E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 2005 2017
dbSNP: rs193922390
rs193922390
MYH7 ; MHRT
0.882 0.080 14 23415651 missense variant C/G;T snv 4.0E-06; 2.0E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2008 2017
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