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: rs397516269
rs397516269
MYH7
0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.800 1.000 3 1992 2017
dbSNP: rs397516269
rs397516269
MYH7
0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 9 1997 2012
dbSNP: rs397516269
rs397516269
MYH7
0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 1998 2017
dbSNP: rs397516269
rs397516269
MYH7
0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0