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: rs121913642
rs121913642
MYH7
0.925 0.080 14 23427879 missense variant A/G snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.800 1.000 0 2000 2012
dbSNP: rs121913642
rs121913642
MYH7
0.925 0.080 14 23427879 missense variant A/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 6 1989 2013
dbSNP: rs121913642
rs121913642
MYH7
0.925 0.080 14 23427879 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2000 2017