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: rs397516607
rs397516607
RBM20
0.925 0.040 10 110821356 missense variant G/A snv
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.700 1.000 2 2014 2016
dbSNP: rs397516607
rs397516607
RBM20
0.925 0.040 10 110821356 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2016 2016
dbSNP: rs397516607
rs397516607
RBM20
0.925 0.040 10 110821356 missense variant G/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0