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: rs397516254
rs397516254
MYH7 ; MHRT
0.925 0.160 14 23413809 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 4 2012 2017
dbSNP: rs397516254
rs397516254
MYH7 ; MHRT
0.925 0.160 14 23413809 missense variant C/T snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0
dbSNP: rs397516254
rs397516254
MYH7 ; MHRT
0.925 0.160 14 23413809 missense variant C/T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0