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: 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: rs121913652
rs121913652
MYH7 ; MHRT
0.882 0.080 14 23414015 missense variant C/T snv 7.0E-06
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 1.000 1 2019 2019
dbSNP: rs121913652
rs121913652
MYH7 ; MHRT
0.882 0.080 14 23414015 missense variant C/T snv 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 2019 2019