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: rs730880750
rs730880750
MYH7
0.851 0.080 14 23424843 missense variant G/A;C;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 6 2000 2017
dbSNP: rs730880750
rs730880750
MYH7
0.851 0.080 14 23424843 missense variant G/A;C;T snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs730880750
rs730880750
MYH7
0.851 0.080 14 23424843 missense variant G/A;C;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.010 1.000 1 2000 2000
dbSNP: rs730880750
rs730880750
MYH7
0.851 0.080 14 23424843 missense variant G/A;C;T snv
CUI: C0023213
Disease: Ventricular Outflow Obstruction, Left
Ventricular Outflow Obstruction, Left 		0.010 1.000 1 2011 2011