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: rs1060501439
rs1060501439
MYH7
0.925 0.080 14 23424938 missense variant T/A snv
CUI: C4476545
Disease: Dilatation of the ventricular cavity
Dilatation of the ventricular cavity 		0.700 0
dbSNP: rs760187215
rs760187215
MYH7
1.000 0.040 14 23431859 missense variant C/T snv 8.0E-06
CUI: C4476545
Disease: Dilatation of the ventricular cavity
Dilatation of the ventricular cavity 		0.700 0