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: rs121913634
rs121913634
MYH7
0.882 0.080 14 23425372 missense variant T/A;C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 1 2011 2011
dbSNP: rs121913634
rs121913634
MYH7
0.882 0.080 14 23425372 missense variant T/A;C snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 1.000 1 2011 2011