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
0.846 0.036 14 23429807 missense variant C/G,T snp
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 5 2010 2017
dbSNP: rs397516089
rs397516089
0.846 0.036 14 23429807 missense variant C/G,T snp
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 4 2010 2015
dbSNP: rs397516089
rs397516089
0.846 0.036 14 23429807 missense variant C/G,T snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1 2018 2018
dbSNP: rs397516089
rs397516089
0.846 0.036 14 23429807 missense variant C/G,T snp
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S
0.700 0