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: rs45516091
rs45516091
MYH7
14 23431608 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2008 2008
dbSNP: rs45516091
rs45516091
MYH7
14 23431608 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0