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: rs397516471
rs397516471
0.878 0.071 1 201363348 missense variant C/T snp
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.700 5 2011 2017
dbSNP: rs397516471
rs397516471
0.878 0.071 1 201363348 missense variant C/T snp
Cardiomyopathy, Familial Hypertrophic, 2
0.700 5 2011 2017
dbSNP: rs397516471
rs397516471
0.878 0.071 1 201363348 missense variant C/T snp
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 5 2011 2017
dbSNP: rs397516471
rs397516471
0.878 0.071 1 201363348 missense variant C/T snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 2 2011 2013