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: rs397516248
rs397516248
0.923 0.107 14 23415153 missense variant C/T snp
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 4 2009 2015
dbSNP: rs397516248
rs397516248
0.923 0.107 14 23415153 missense variant C/T snp
Left ventricular noncompaction cardiomyopathy
0.700 2 2009 2015
dbSNP: rs397516248
rs397516248
0.923 0.107 14 23415153 missense variant C/T snp
Cardiomyopathy, Hypertrophic, Familial
0.700 1 2008 2008
dbSNP: rs397516248
rs397516248
0.923 0.107 14 23415153 missense variant C/T snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1 2018 2018