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: rs397516089
rs397516089
0.827 0.080 14 23429807 missense variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 4 2009 2017
dbSNP: rs397516089
rs397516089
0.827 0.080 14 23429807 missense variant C/G;T snv
Cardiomyopathy, Hypertrophic, Familial
0.700 1.000 4 2009 2015
dbSNP: rs397516089
rs397516089
0.827 0.080 14 23429807 missense variant C/G;T snv
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction
0.700 1.000 3 2009 2015
dbSNP: rs397516089
rs397516089
0.827 0.080 14 23429807 missense variant C/G;T snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S
0.700 0