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: rs121913633
rs121913633
MYH7
0.882 0.080 14 23431447 missense variant C/T 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: rs121913633
rs121913633
MYH7
0.882 0.080 14 23431447 missense variant C/T snv 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 6 1993 2009
dbSNP: rs121913633
rs121913633
MYH7
0.882 0.080 14 23431447 missense variant C/T snv 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2011 2017