Source: CLINVAR

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: rs397516165
rs397516165
MYH7
0.925 0.080 14 23424118 missense variant C/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2011 2017
dbSNP: rs397516165
rs397516165
MYH7
0.925 0.080 14 23424118 missense variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 5 2011 2017
dbSNP: rs397516165
rs397516165
MYH7
0.925 0.080 14 23424118 missense variant C/G;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs397516165
rs397516165
MYH7
0.925 0.080 14 23424118 missense variant C/G;T snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0